Slc1a1 Variant Search Result - Rat Genome Database

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200 records found for search term Slc1a1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11605730	CV312964	single nucleotide variant	NM_004170.6(SLC1A1):c.*2G>A	Dicarboxylic aminoaciduria [RCV000323263]	uncertain significance	9	4585560	4585560	Human	1	name
11612360	CV312950	single nucleotide variant	NM_004170.6(SLC1A1):c.-86G>C	Dicarboxylic aminoaciduria [RCV000407345]\|not provided [RCV004696156]	uncertain significance	9	4490594	4490594	Human	1	name
11610315	CV312965	single nucleotide variant	NM_004170.6(SLC1A1):c.*43C>T	Dicarboxylic aminoaciduria [RCV000380189]	uncertain significance	9	4585601	4585601	Human	1	name
11607648	CV319482	single nucleotide variant	NM_004170.6(SLC1A1):c.-93G>A	Dicarboxylic aminoaciduria [RCV000345939]	likely benign\|uncertain significance	9	4490587	4490587	Human	1	name
11602475	CV308505	single nucleotide variant	NM_004170.6(SLC1A1):c.-167C>G	Dicarboxylic aminoaciduria [RCV000291056]\|not provided [RCV004705496]	likely benign\|uncertain significance	9	4490513	4490513	Human	1	name
11601432	CV308526	single nucleotide variant	NM_004170.6(SLC1A1):c.*366T>C	Dicarboxylic aminoaciduria [RCV000282336]	benign\|likely benign	9	4585924	4585924	Human	1	name
11662550	CV308533	single nucleotide variant	NM_004170.6(SLC1A1):c.*438T>C	Dicarboxylic aminoaciduria [RCV000387239]	uncertain significance	9	4585996	4585996	Human	1	name
11608691	CV308534	single nucleotide variant	NM_004170.6(SLC1A1):c.*887T>C	Dicarboxylic aminoaciduria [RCV000358710]	uncertain significance	9	4586445	4586445	Human	1	name
11652503	CV308535	single nucleotide variant	NM_004170.6(SLC1A1):c.*987T>C	Dicarboxylic aminoaciduria [RCV000305535]	uncertain significance	9	4586545	4586545	Human	1	name
11647795	CV312967	single nucleotide variant	NM_004170.6(SLC1A1):c.*111G>T	Dicarboxylic aminoaciduria [RCV000278629]	uncertain significance	9	4585669	4585669	Human	1	name
11654396	CV312970	single nucleotide variant	NM_004170.6(SLC1A1):c.*161G>A	Dicarboxylic aminoaciduria [RCV000317412]	uncertain significance	9	4585719	4585719	Human	1	name
11609907	CV312976	single nucleotide variant	NM_004170.6(SLC1A1):c.*355A>T	Dicarboxylic aminoaciduria [RCV000374531]	uncertain significance	9	4585913	4585913	Human	1	name
11650717	CV312977	single nucleotide variant	NM_004170.6(SLC1A1):c.*614T>C	Dicarboxylic aminoaciduria [RCV000294792]	uncertain significance	9	4586172	4586172	Human	1	name
11608177	CV312987	single nucleotide variant	NM_004170.6(SLC1A1):c.*629C>T	Dicarboxylic aminoaciduria [RCV000352043]	uncertain significance	9	4586187	4586187	Human	1	name
11664187	CV312988	single nucleotide variant	NM_004170.6(SLC1A1):c.*719T>A	Dicarboxylic aminoaciduria [RCV000403518]	uncertain significance	9	4586277	4586277	Human	1	name
11610417	CV318848	single nucleotide variant	NM_004170.6(SLC1A1):c.-185G>C	Dicarboxylic aminoaciduria [RCV000381127]	uncertain significance	9	4490495	4490495	Human	1	name
11658436	CV318891	single nucleotide variant	NM_004170.6(SLC1A1):c.*425T>C	Dicarboxylic aminoaciduria [RCV000349079]\|not provided [RCV004696157]	uncertain significance	9	4585983	4585983	Human	1	name
11658006	CV318896	single nucleotide variant	NM_004170.6(SLC1A1):c.*675A>G	Dicarboxylic aminoaciduria [RCV000345996]	uncertain significance	9	4586233	4586233	Human	1	name
11603577	CV318897	single nucleotide variant	NM_004170.6(SLC1A1):c.*726G>A	Dicarboxylic aminoaciduria [RCV000301539]	uncertain significance	9	4586284	4586284	Human	1	name
11599560	CV318901	single nucleotide variant	NM_004170.6(SLC1A1):c.*948G>A	Dicarboxylic aminoaciduria [RCV000266774]\|not provided [RCV004696158]	uncertain significance	9	4586506	4586506	Human	1	name
11607586	CV319481	single nucleotide variant	NM_004170.6(SLC1A1):c.-211C>T	Dicarboxylic aminoaciduria [RCV000345145]	likely benign\|uncertain significance	9	4490469	4490469	Human	1	name
28880059	CV902230	single nucleotide variant	NM_004170.6(SLC1A1):c.*175G>A	Dicarboxylic aminoaciduria [RCV001167217]	uncertain significance	9	4585733	4585733	Human	1	name
28880061	CV902231	single nucleotide variant	NM_004170.6(SLC1A1):c.*188G>A	Dicarboxylic aminoaciduria [RCV001167218]	likely benign	9	4585746	4585746	Human	1	name
28880066	CV902232	single nucleotide variant	NM_004170.6(SLC1A1):c.*253A>G	Dicarboxylic aminoaciduria [RCV001167219]\|not provided [RCV004695096]	uncertain significance	9	4585811	4585811	Human	1	name
28880071	CV902233	single nucleotide variant	NM_004170.6(SLC1A1):c.*406G>T	Dicarboxylic aminoaciduria [RCV001167220]	uncertain significance	9	4585964	4585964	Human	1	name
28882064	CV902234	single nucleotide variant	NM_004170.6(SLC1A1):c.*475A>G	Dicarboxylic aminoaciduria [RCV001167799]	likely benign	9	4586033	4586033	Human	1	name
28882065	CV902235	single nucleotide variant	NM_004170.6(SLC1A1):c.*526C>T	Dicarboxylic aminoaciduria [RCV001167800]	likely benign	9	4586084	4586084	Human	1	name
28882070	CV902236	single nucleotide variant	NM_004170.6(SLC1A1):c.*567T>C	Dicarboxylic aminoaciduria [RCV001167801]	uncertain significance	9	4586125	4586125	Human	1	name
28882073	CV902237	single nucleotide variant	NM_004170.6(SLC1A1):c.*570G>C	Dicarboxylic aminoaciduria [RCV001167802]	uncertain significance	9	4586128	4586128	Human	1	name
28882078	CV902238	single nucleotide variant	NM_004170.6(SLC1A1):c.*591G>C	Dicarboxylic aminoaciduria [RCV001167803]	uncertain significance	9	4586149	4586149	Human	1	name
28888610	CV902239	single nucleotide variant	NM_004170.6(SLC1A1):c.*671A>G	Dicarboxylic aminoaciduria [RCV001169672]	uncertain significance	9	4586229	4586229	Human	1	name
28888613	CV902240	single nucleotide variant	NM_004170.6(SLC1A1):c.*673G>A	Dicarboxylic aminoaciduria [RCV001169673]	uncertain significance	9	4586231	4586231	Human	1	name
28888618	CV902241	single nucleotide variant	NM_004170.6(SLC1A1):c.*767A>G	Dicarboxylic aminoaciduria [RCV001169674]	uncertain significance	9	4586325	4586325	Human	1	name
28888621	CV902242	single nucleotide variant	NM_004170.6(SLC1A1):c.*828G>C	Dicarboxylic aminoaciduria [RCV001169675]	uncertain significance	9	4586386	4586386	Human	1	name
28888627	CV902243	single nucleotide variant	NM_004170.6(SLC1A1):c.*842G>T	Dicarboxylic aminoaciduria [RCV001169676]	uncertain significance	9	4586400	4586400	Human	1	name
28875217	CV902244	single nucleotide variant	NM_004170.6(SLC1A1):c.*849G>A	Dicarboxylic aminoaciduria [RCV001165686]	uncertain significance	9	4586407	4586407	Human	1	name
28875221	CV902245	single nucleotide variant	NM_004170.6(SLC1A1):c.*852C>T	Dicarboxylic aminoaciduria [RCV001165687]	uncertain significance	9	4586410	4586410	Human	1	name
28875224	CV902246	single nucleotide variant	NM_004170.6(SLC1A1):c.*853G>A	Dicarboxylic aminoaciduria [RCV001165688]	uncertain significance	9	4586411	4586411	Human	1	name
126742961	CV1020647	single nucleotide variant	NM_004170.6(SLC1A1):c.768-4C>G	Dicarboxylic aminoaciduria [RCV001336641]\|not provided [RCV004692573]	uncertain significance	9	4573903	4573903	Human	1	name
11602433	CV308519	single nucleotide variant	NM_004170.6(SLC1A1):c.441-5A>C	Dicarboxylic aminoaciduria [RCV000290639]	uncertain significance	9	4566042	4566042	Human	1	name
11658951	CV308537	single nucleotide variant	NM_004170.6(SLC1A1):c.*1063A>G	Dicarboxylic aminoaciduria [RCV000353458]	uncertain significance	9	4586621	4586621	Human	1	name
11644580	CV308538	single nucleotide variant	NM_004170.6(SLC1A1):c.*1076A>C	Dicarboxylic aminoaciduria [RCV000260923]	uncertain significance	9	4586634	4586634	Human	1	name
11600459	CV308540	single nucleotide variant	NM_004170.6(SLC1A1):c.*1250G>C	Dicarboxylic aminoaciduria [RCV000273817]\|not provided [RCV004712754]	benign	9	4586808	4586808	Human	1	name
11611012	CV308546	single nucleotide variant	NM_004170.6(SLC1A1):c.*1361T>C	Dicarboxylic aminoaciduria [RCV000389494]	benign\|likely benign	9	4586919	4586919	Human	1	name
11610616	CV308558	single nucleotide variant	NM_004170.6(SLC1A1):c.*1545T>A	Dicarboxylic aminoaciduria [RCV000383598]	uncertain significance	9	4587103	4587103	Human	1	name
11602521	CV308560	single nucleotide variant	NM_004170.6(SLC1A1):c.*1588A>G	Dicarboxylic aminoaciduria [RCV000291757]\|not provided [RCV004712755]	benign	9	4587146	4587146	Human	1	name
11657205	CV308569	single nucleotide variant	NM_004170.6(SLC1A1):c.*1597T>C	Dicarboxylic aminoaciduria [RCV000339662]	uncertain significance	9	4587155	4587155	Human	1	name
11611292	CV308570	single nucleotide variant	NM_004170.6(SLC1A1):c.*1603A>G	Dicarboxylic aminoaciduria [RCV000393133]	benign\|likely benign	9	4587161	4587161	Human	1	name
11606438	CV312989	single nucleotide variant	NM_004170.6(SLC1A1):c.*1344T>G	Dicarboxylic aminoaciduria [RCV000331206]	uncertain significance	9	4586902	4586902	Human	1	name
11649647	CV312991	single nucleotide variant	NM_004170.6(SLC1A1):c.*1374T>C	Dicarboxylic aminoaciduria [RCV000288141]	uncertain significance	9	4586932	4586932	Human	1	name
11657919	CV312994	single nucleotide variant	NM_004170.6(SLC1A1):c.*1485A>G	Dicarboxylic aminoaciduria [RCV000345324]	uncertain significance	9	4587043	4587043	Human	1	name
11652387	CV313000	single nucleotide variant	NM_004170.6(SLC1A1):c.*1621T>G	Dicarboxylic aminoaciduria [RCV000304765]	uncertain significance	9	4587179	4587179	Human	1	name
11610104	CV318857	single nucleotide variant	NM_004170.6(SLC1A1):c.582+6A>G	Dicarboxylic aminoaciduria [RCV000376959]\|not provided [RCV000961898]	benign\|likely benign	9	4567773	4567773	Human	1	name
11609963	CV318903	single nucleotide variant	NM_004170.6(SLC1A1):c.*1215T>C	Dicarboxylic aminoaciduria [RCV000375222]	uncertain significance	9	4586773	4586773	Human	1	name
11611135	CV319509	single nucleotide variant	NM_004170.6(SLC1A1):c.875+8A>C	Dicarboxylic aminoaciduria [RCV000391001]\|not provided [RCV001696217]	benign	9	4574022	4574022	Human	1	name
11654496	CV319546	single nucleotide variant	NM_004170.6(SLC1A1):c.*1100T>C	Dicarboxylic aminoaciduria [RCV000318232]	uncertain significance	9	4586658	4586658	Human	1	name
405277283	CV3210660	single nucleotide variant	NM_004170.6(SLC1A1):c.483+4A>C	SLC1A1-related disorder [RCV003917396]	likely benign	9	4566093	4566093	Human		name , trait , alternate_id
405708823	CV3225499	single nucleotide variant	NM_004170.6(SLC1A1):c.484-2A>G	Dicarboxylic aminoaciduria [RCV003990555]	likely pathogenic	9	4567667	4567667	Human	1	name
28880273	CV902247	single nucleotide variant	NM_004170.6(SLC1A1):c.*1154A>G	Dicarboxylic aminoaciduria [RCV001167280]	uncertain significance	9	4586712	4586712	Human	1	name
28880276	CV902248	single nucleotide variant	NM_004170.6(SLC1A1):c.*1228C>A	Dicarboxylic aminoaciduria [RCV001167281]	uncertain significance	9	4586786	4586786	Human	1	name
28880280	CV902249	single nucleotide variant	NM_004170.6(SLC1A1):c.*1393C>T	Dicarboxylic aminoaciduria [RCV001167282]	uncertain significance	9	4586951	4586951	Human	1	name
28882298	CV902250	single nucleotide variant	NM_004170.6(SLC1A1):c.*1504T>G	Dicarboxylic aminoaciduria [RCV001167869]	uncertain significance	9	4587062	4587062	Human	1	name
28882302	CV902251	single nucleotide variant	NM_004170.6(SLC1A1):c.*1516G>C	Dicarboxylic aminoaciduria [RCV001167870]	likely benign	9	4587074	4587074	Human	1	name
28882305	CV902252	single nucleotide variant	NM_004170.6(SLC1A1):c.*1784G>A	Dicarboxylic aminoaciduria [RCV001167871]	likely benign	9	4587342	4587342	Human	1	name
28888814	CV902253	single nucleotide variant	NM_004170.6(SLC1A1):c.*1805A>G	Dicarboxylic aminoaciduria [RCV001169741]	uncertain significance	9	4587363	4587363	Human	1	name
28888817	CV902254	single nucleotide variant	NM_004170.6(SLC1A1):c.*1809T>C	Dicarboxylic aminoaciduria [RCV001169742]	uncertain significance	9	4587367	4587367	Human	1	name
28888822	CV902255	single nucleotide variant	NM_004170.6(SLC1A1):c.*1812T>A	Dicarboxylic aminoaciduria [RCV001169743]	uncertain significance	9	4587370	4587370	Human	1	name
28879613	CV903417	single nucleotide variant	NM_004170.6(SLC1A1):c.91+10G>A	Dicarboxylic aminoaciduria [RCV001167086]	uncertain significance	9	4490780	4490780	Human	1	name
28879843	CV903422	single nucleotide variant	NM_004170.6(SLC1A1):c.767+7A>C	Dicarboxylic aminoaciduria [RCV001167151]	uncertain significance	9	4572395	4572395	Human	1	name
38460285	CV920274	single nucleotide variant	NM_004170.6(SLC1A1):c.875+8A>G	Dicarboxylic aminoaciduria [RCV001196460]	uncertain significance	9	4574022	4574022	Human	1	name
150513696	CV1229112	single nucleotide variant	NM_004170.6(SLC1A1):c.325+55G>A	not provided [RCV001637954]	benign	9	4561596	4561596	Human		name
150472830	CV1235124	single nucleotide variant	NM_004170.6(SLC1A1):c.767+88C>T	not provided [RCV001651493]	benign	9	4572476	4572476	Human		name
150497030	CV1236954	single nucleotide variant	NM_004170.6(SLC1A1):c.875+67G>T	not provided [RCV001656018]	benign	9	4574081	4574081	Human		name
150488502	CV1237490	single nucleotide variant	NM_004170.6(SLC1A1):c.875+31C>G	not provided [RCV001654339]	benign	9	4574045	4574045	Human		name
150434800	CV1244041	single nucleotide variant	NM_004170.6(SLC1A1):c.233-75C>T	not provided [RCV001665248]	benign	9	4561374	4561374	Human		name
150484398	CV1250012	single nucleotide variant	NM_004170.6(SLC1A1):c.233-23T>C	not provided [RCV001673625]	benign	9	4561426	4561426	Human		name
150501020	CV1256211	single nucleotide variant	NM_004170.6(SLC1A1):c.91+110T>C	not provided [RCV001676835]	benign	9	4490880	4490880	Human		name
150497698	CV1256753	single nucleotide variant	NM_004170.6(SLC1A1):c.767+92T>C	not provided [RCV001676245]	benign	9	4572480	4572480	Human		name
150463429	CV1263804	single nucleotide variant	NM_004170.6(SLC1A1):c.325+89G>A	not provided [RCV001682505]	benign	9	4561630	4561630	Human		name
150450117	CV1275765	single nucleotide variant	NM_004170.6(SLC1A1):c.998+44G>A	not provided [RCV001708220]	benign	9	4576167	4576167	Human		name
150485896	CV1280862	single nucleotide variant	NM_004170.6(SLC1A1):c.233-28T>C	not provided [RCV001715689]	benign	9	4561421	4561421	Human		name
11609536	CV312962	single nucleotide variant	NM_004170.6(SLC1A1):c.232+14A>T	Dicarboxylic aminoaciduria [RCV000369737]\|not provided [RCV001537520]	benign	9	4544721	4544721	Human	1	name
11610675	CV319507	single nucleotide variant	NM_004170.6(SLC1A1):c.441-11G>A	Dicarboxylic aminoaciduria [RCV000384977]\|not provided [RCV001672729]	benign\|likely benign	9	4566036	4566036	Human	1	name
11635767	CV319542	microsatellite	NM_004170.6(SLC1A1):c.*657AT[9]	Dicarboxylic aminoaciduria [RCV000393965]	benign	9	4586213	4586214	Human		name
14693840	CV620813	single nucleotide variant	NM_004170.6(SLC1A1):c.1194-1G>C	Dicarboxylic aminoaciduria [RCV000779584]	uncertain significance	9	4583037	4583037	Human		name
15122713	CV787816	single nucleotide variant	NM_004170.6(SLC1A1):c.1328+9G>A	not provided [RCV000979696]	likely benign	9	4583181	4583181	Human		name
28874887	CV903420	single nucleotide variant	NM_004170.6(SLC1A1):c.484-12T>A	Dicarboxylic aminoaciduria [RCV001165552]	uncertain significance	9	4567657	4567657	Human	1	name
28879837	CV903421	single nucleotide variant	NM_004170.6(SLC1A1):c.583-11T>G	Dicarboxylic aminoaciduria [RCV001167149]	uncertain significance	9	4572193	4572193	Human	1	name
150331767	CV1171996	single nucleotide variant	NM_004170.6(SLC1A1):c.483+121A>C	not provided [RCV001538766]	benign	9	4566210	4566210	Human		name
150434742	CV1215965	single nucleotide variant	NM_004170.6(SLC1A1):c.767+180G>A	not provided [RCV001609154]	benign	9	4572568	4572568	Human		name
150474492	CV1217810	single nucleotide variant	NM_004170.6(SLC1A1):c.1193+88G>C	not provided [RCV001615821]	benign	9	4576851	4576851	Human		name
150454927	CV1220374	single nucleotide variant	NM_004170.6(SLC1A1):c.999-118T>G	not provided [RCV001612467]	benign	9	4576451	4576451	Human		name
150431364	CV1235422	single nucleotide variant	NM_004170.6(SLC1A1):c.876-328A>G	not provided [RCV001641792]	benign	9	4575673	4575673	Human		name
150488297	CV1237457	single nucleotide variant	NM_004170.6(SLC1A1):c.768-321G>T	not provided [RCV001654306]	benign	9	4573586	4573586	Human		name
150511822	CV1242810	single nucleotide variant	NM_004170.6(SLC1A1):c.325+228T>C	not provided [RCV001661163]	benign	9	4561769	4561769	Human		name
150491064	CV1251130	single nucleotide variant	NM_004170.6(SLC1A1):c.232+200A>C	not provided [RCV001674798]	benign	9	4544907	4544907	Human		name
150487013	CV1251452	single nucleotide variant	NM_004170.6(SLC1A1):c.441-213A>G	not provided [RCV001674123]	benign	9	4565834	4565834	Human		name
150463077	CV1253753	single nucleotide variant	NM_004170.6(SLC1A1):c.325+110G>A	not provided [RCV001669795]	benign	9	4561651	4561651	Human		name
11609563	CV318881	single nucleotide variant	NM_004170.6(SLC1A1):c.1193+11G>A	Dicarboxylic aminoaciduria [RCV000370193]\|not provided [RCV001712351]	benign	9	4576774	4576774	Human	1	name
11612203	CV319533	single nucleotide variant	NM_004170.6(SLC1A1):c.1194-10G>A	Dicarboxylic aminoaciduria [RCV000405089]	uncertain significance	9	4583028	4583028	Human	1	name
11635138	CV319537	microsatellite	NM_004170.6(SLC1A1):c.*657AT[11]	Dicarboxylic aminoaciduria [RCV000307575]	uncertain significance	9	4586213	4586214	Human		name
150462892	CV1273075	single nucleotide variant	NM_004170.6(SLC1A1):c.1328+203G>A	not provided [RCV001693832]	benign	9	4583375	4583375	Human		name
150509794	CV1284654	single nucleotide variant	NM_004170.6(SLC1A1):c.1194-195T>C	not provided [RCV001720762]	benign	9	4582843	4582843	Human		name
11601566	CV318849	single nucleotide variant	NM_004170.6(SLC1A1):c.81G>C (p.Ala27=)	Dicarboxylic aminoaciduria [RCV000283240]\|not provided [RCV004712753]	benign\|uncertain significance	9	4490760	4490760	Human	1	name
15178794	CV737151	single nucleotide variant	NM_004170.6(SLC1A1):c.81G>T (p.Ala27=)	not provided [RCV000906957]	likely benign	9	4490760	4490760	Human		name
15193571	CV751737	single nucleotide variant	NM_004170.6(SLC1A1):c.45G>A (p.Leu15=)	not provided [RCV000910878]	likely benign	9	4490724	4490724	Human		name
156246974	CV2221839	single nucleotide variant	NM_004170.6(SLC1A1):c.13G>A (p.Ala5Thr)	not specified [RCV004102864]	uncertain significance	9	4490692	4490692	Human		name
11606618	CV308515	single nucleotide variant	NM_004170.6(SLC1A1):c.165T>C (p.Pro55=)	Dicarboxylic aminoaciduria [RCV000333800]\|not provided [RCV000971907]	benign\|uncertain significance	9	4544640	4544640	Human	1	name
11603411	CV312951	single nucleotide variant	NM_004170.6(SLC1A1):c.120A>G (p.Glu40=)	Dicarboxylic aminoaciduria [RCV000299576]	uncertain significance	9	4544595	4544595	Human	1	name
11609433	CV319484	single nucleotide variant	NM_004170.6(SLC1A1):c.123C>T (p.His41=)	Dicarboxylic aminoaciduria [RCV000368342]\|not provided [RCV000912665]	benign\|uncertain significance	9	4544598	4544598	Human	1	name
405712153	CV3314716	single nucleotide variant	NM_004170.6(SLC1A1):c.10C>T (p.Pro4Ser)	not specified [RCV004448636]	uncertain significance	9	4490689	4490689	Human		name
405712185	CV3314721	single nucleotide variant	NM_004170.6(SLC1A1):c.23G>A (p.Gly8Glu)	not specified [RCV004448641]	uncertain significance	9	4490702	4490702	Human		name
15174768	CV711985	single nucleotide variant	NM_004170.6(SLC1A1):c.195C>G (p.Leu65=)	Dicarboxylic aminoaciduria [RCV001253950]\|not provided [RCV000972787]	benign	9	4544670	4544670	Human	1	name
15187374	CV737153	single nucleotide variant	NM_004170.6(SLC1A1):c.261C>T (p.Ser87=)	Dicarboxylic aminoaciduria [RCV001253891]\|not provided [RCV000909072]	benign	9	4561477	4561477	Human	1	name
156039833	CV2332758	single nucleotide variant	NM_004170.6(SLC1A1):c.36G>C (p.Lys12Asn)	not specified [RCV004189429]	uncertain significance	9	4490715	4490715	Human		name
11601987	CV318865	single nucleotide variant	NM_004170.6(SLC1A1):c.633C>T (p.Asn211=)	Dicarboxylic aminoaciduria [RCV000287181]\|SLC1A1-related disorder [RCV003912581]\|not provided [RCV000971769]	benign\|likely benign\|uncertain significance	9	4572254	4572254	Human	1	name , trait , alternate_id
11605963	CV319503	single nucleotide variant	NM_004170.6(SLC1A1):c.414G>A (p.Thr138=)	Dicarboxylic aminoaciduria [RCV000325722]\|not provided [RCV001637007]	benign	9	4564432	4564432	Human	1	name
405712194	CV3314722	single nucleotide variant	NM_004170.6(SLC1A1):c.441G>A (p.Arg147=)	not specified [RCV004448642]	likely benign	9	4566047	4566047	Human		name
405712211	CV3314724	single nucleotide variant	NM_004170.6(SLC1A1):c.77C>G (p.Ala26Gly)	not specified [RCV004448644]	uncertain significance	9	4490756	4490756	Human		name
13831986	CV582483	single nucleotide variant	NM_004170.6(SLC1A1):c.91G>C (p.Gly31Arg)	not provided [RCV000722671]	uncertain significance	9	4490770	4490770	Human		name
15150036	CV723586	single nucleotide variant	NM_004170.6(SLC1A1):c.393C>A (p.Gly131=)	not provided [RCV000879292]	likely benign	9	4564411	4564411	Human		name
15187378	CV737154	single nucleotide variant	NM_004170.6(SLC1A1):c.750C>T (p.Ile250=)	Dicarboxylic aminoaciduria [RCV001167150]\|not provided [RCV000909073]	benign	9	4572371	4572371	Human	1	name
15189639	CV767444	single nucleotide variant	NM_004170.6(SLC1A1):c.706C>T (p.Leu236=)	not provided [RCV000932296]	likely benign	9	4572327	4572327	Human		name
28874735	CV902210	single nucleotide variant	NM_004170.6(SLC1A1):c.73G>C (p.Val25Leu)	Dicarboxylic aminoaciduria [RCV001165488]	uncertain significance	9	4490752	4490752	Human	1	name
28874890	CV902220	single nucleotide variant	NM_004170.6(SLC1A1):c.519C>T (p.Ser173=)	Dicarboxylic aminoaciduria [RCV001165554]	uncertain significance	9	4567704	4567704	Human	1	name
28879853	CV902223	single nucleotide variant	NM_004170.6(SLC1A1):c.807G>A (p.Lys269=)	Dicarboxylic aminoaciduria [RCV001167153]	uncertain significance	9	4573946	4573946	Human	1	name
10406556	CV207726	single nucleotide variant	NM_004170.6(SLC1A1):c.269T>C (p.Ile90Thr)	not specified [RCV000193124]	uncertain significance	9	4561485	4561485	Human		name
156183708	CV2198531	single nucleotide variant	NM_004170.6(SLC1A1):c.126C>G (p.Ser42Arg)	not specified [RCV004075558]	uncertain significance	9	4544601	4544601	Human		name
405869478	CV2832010	deletion	NM_004170.6(SLC1A1):c.749del (p.Ile250fs)	not provided [RCV004573022]	uncertain significance	9	4572370	4572370	Human		name
11600443	CV308514	single nucleotide variant	NM_004170.6(SLC1A1):c.149T>A (p.Phe50Tyr)	Dicarboxylic aminoaciduria [RCV000274032]\|SLC1A1-related disorder [RCV003932522]\|not provided [RCV000957132]	benign\|likely benign	9	4544624	4544624	Human	1	name , trait , alternate_id
11646585	CV308520	single nucleotide variant	NM_004170.6(SLC1A1):c.1254C>G (p.Thr418=)	Dicarboxylic aminoaciduria [RCV000271878]	uncertain significance	9	4583098	4583098	Human	1	name
11612016	CV312963	single nucleotide variant	NM_004170.6(SLC1A1):c.1110T>C (p.Thr370=)	Dicarboxylic aminoaciduria [RCV000402585]\|not provided [RCV001672730]	benign	9	4576680	4576680	Human	1	name
11606240	CV318888	single nucleotide variant	NM_004170.6(SLC1A1):c.1398C>T (p.Ser466=)	Dicarboxylic aminoaciduria [RCV000329360]	uncertain significance	9	4585381	4585381	Human	1	name
11599486	CV318890	single nucleotide variant	NM_004170.6(SLC1A1):c.1521C>A (p.Gly507=)	Dicarboxylic aminoaciduria [RCV000266171]	uncertain significance	9	4585504	4585504	Human	1	name
11604576	CV319513	single nucleotide variant	NM_004170.6(SLC1A1):c.1150T>C (p.Leu384=)	Dicarboxylic aminoaciduria [RCV000310943]	uncertain significance	9	4576720	4576720	Human	1	name
11604247	CV319536	single nucleotide variant	NM_004170.6(SLC1A1):c.1227T>C (p.Ala409=)	Dicarboxylic aminoaciduria [RCV000307381]\|not provided [RCV000925858]	likely benign\|uncertain significance	9	4583071	4583071	Human	1	name
405281663	CV3213373	single nucleotide variant	NM_004170.6(SLC1A1):c.1290C>T (p.Ala430=)	SLC1A1-related disorder [RCV003907347]	likely benign	9	4583134	4583134	Human		name , trait , alternate_id
407508875	CV3477299	single nucleotide variant	NM_004170.6(SLC1A1):c.140T>C (p.Leu47Pro)	not specified [RCV004672187]	uncertain significance	9	4544615	4544615	Human		name
597677006	CV3596383	single nucleotide variant	NM_004170.6(SLC1A1):c.161T>C (p.Phe54Ser)	not specified [RCV004857025]	uncertain significance	9	4544636	4544636	Human		name
597677028	CV3596385	single nucleotide variant	NM_004170.6(SLC1A1):c.109T>G (p.Leu37Val)	not specified [RCV004857027]	uncertain significance	9	4544584	4544584	Human		name
598269096	CV3921770	single nucleotide variant	NM_004170.6(SLC1A1):c.100A>G (p.Thr34Ala)	not specified [RCV005281896]	uncertain significance	9	4544575	4544575	Human		name
13832374	CV582868	single nucleotide variant	NM_004170.6(SLC1A1):c.115C>T (p.Arg39Ter)	not provided [RCV000723061]	uncertain significance	9	4544590	4544590	Human		name
15182497	CV723587	single nucleotide variant	NM_004170.6(SLC1A1):c.1200G>A (p.Thr400=)	Dicarboxylic aminoaciduria [RCV001169603]\|not provided [RCV000886005]	likely benign\|uncertain significance	9	4583044	4583044	Human	1	name
15148707	CV723589	single nucleotide variant	NM_004170.6(SLC1A1):c.1515T>C (p.Asn505=)	not provided [RCV000879013]	benign	9	4585498	4585498	Human		name
38598663	CV902214	single nucleotide variant	NM_004170.6(SLC1A1):c.173T>A (p.Ile58Asn)	Dicarboxylic aminoaciduria [RCV001253949]	uncertain significance	9	4544648	4544648	Human	1	name
38598618	CV902215	single nucleotide variant	NM_004170.6(SLC1A1):c.262G>A (p.Gly88Arg)	Dicarboxylic aminoaciduria [RCV001253892]\|not specified [RCV004035336]	uncertain significance	9	4561478	4561478	Human	1	name
38598619	CV902216	single nucleotide variant	NM_004170.6(SLC1A1):c.274C>A (p.Leu92Met)	Dicarboxylic aminoaciduria [RCV001253893]	uncertain significance	9	4561490	4561490	Human	1	name
28881794	CV902227	single nucleotide variant	NM_004170.6(SLC1A1):c.1071C>T (p.Phe357=)	Dicarboxylic aminoaciduria [RCV001167731]	uncertain significance	9	4576641	4576641	Human	1	name
28875098	CV902228	single nucleotide variant	NM_004170.6(SLC1A1):c.1302C>A (p.Thr434=)	Dicarboxylic aminoaciduria [RCV001165630]	uncertain significance	9	4583146	4583146	Human	1	name
155976575	CV2246008	single nucleotide variant	NM_004170.6(SLC1A1):c.310A>G (p.Ile104Val)	not specified [RCV004113926]	uncertain significance	9	4561526	4561526	Human		name
156168533	CV2270569	single nucleotide variant	NM_004170.6(SLC1A1):c.962C>T (p.Ala321Val)	not specified [RCV004137518]	uncertain significance	9	4576087	4576087	Human		name
156272193	CV2280883	single nucleotide variant	NM_004170.6(SLC1A1):c.563T>C (p.Met188Thr)	not specified [RCV004145133]	uncertain significance	9	4567748	4567748	Human		name
156006444	CV2299564	single nucleotide variant	NM_004170.6(SLC1A1):c.436A>C (p.Ile146Leu)	not specified [RCV004154897]	uncertain significance	9	4564454	4564454	Human		name
156334630	CV2333412	single nucleotide variant	NM_004170.6(SLC1A1):c.386G>A (p.Arg129Lys)	not specified [RCV004190119]	uncertain significance	9	4564404	4564404	Human		name
156248734	CV2362263	single nucleotide variant	NM_004170.6(SLC1A1):c.410G>A (p.Ser137Asn)	not specified [RCV004210056]	uncertain significance	9	4564428	4564428	Human		name
329402825	CV2451389	single nucleotide variant	NM_004170.6(SLC1A1):c.472T>C (p.Cys158Arg)	not specified [RCV004272073]	uncertain significance	9	4566078	4566078	Human		name
401778315	CV2714645	single nucleotide variant	NM_004170.6(SLC1A1):c.871A>C (p.Thr291Pro)	not specified [RCV004320231]	uncertain significance	9	4574010	4574010	Human		name
11607313	CV318868	single nucleotide variant	NM_004170.6(SLC1A1):c.812T>C (p.Ile271Thr)	Dicarboxylic aminoaciduria [RCV000342193]	uncertain significance	9	4573951	4573951	Human	1	name
11601055	CV318869	single nucleotide variant	NM_004170.6(SLC1A1):c.893T>C (p.Ile298Thr)	Dicarboxylic aminoaciduria [RCV000279329]\|not specified [RCV005278560]	uncertain significance	9	4576018	4576018	Human	1	name
11600013	CV319500	single nucleotide variant	NM_004170.6(SLC1A1):c.311T>C (p.Ile104Thr)	Dicarboxylic aminoaciduria [RCV000270452]\|not provided [RCV004584699]	likely benign\|uncertain significance	9	4561527	4561527	Human	1	name
11605626	CV319508	single nucleotide variant	NM_004170.6(SLC1A1):c.520G>A (p.Asp174Asn)	Dicarboxylic aminoaciduria [RCV000322223]	uncertain significance	9	4567705	4567705	Human	1	name
405712200	CV3314723	single nucleotide variant	NM_004170.6(SLC1A1):c.670C>A (p.Leu224Ile)	not specified [RCV004448643]	likely benign	9	4572291	4572291	Human		name
405712217	CV3314725	single nucleotide variant	NM_004170.6(SLC1A1):c.918C>A (p.Phe306Leu)	not specified [RCV004448645]	uncertain significance	9	4576043	4576043	Human		name
407508871	CV3477298	single nucleotide variant	NM_004170.6(SLC1A1):c.784A>G (p.Ile262Val)	not specified [RCV004672186]	uncertain significance	9	4573923	4573923	Human		name
597676995	CV3596382	single nucleotide variant	NM_004170.6(SLC1A1):c.330T>G (p.Ile110Met)	not specified [RCV004857024]	uncertain significance	9	4564348	4564348	Human		name
597677035	CV3596386	single nucleotide variant	NM_004170.6(SLC1A1):c.536T>C (p.Met179Thr)	not specified [RCV004857028]	uncertain significance	9	4567721	4567721	Human		name
598269101	CV3921771	single nucleotide variant	NM_004170.6(SLC1A1):c.776C>T (p.Pro259Leu)	not specified [RCV005281897]	uncertain significance	9	4573915	4573915	Human		name
14395676	CV611402	single nucleotide variant	NM_004170.6(SLC1A1):c.860C>G (p.Ala287Gly)	Dicarboxylic aminoaciduria [RCV000760246]	likely benign	9	4573999	4573999	Human	1	name
38598620	CV902217	single nucleotide variant	NM_004170.6(SLC1A1):c.398C>A (p.Thr133Asn)	Dicarboxylic aminoaciduria [RCV001253894]	uncertain significance	9	4564416	4564416	Human	1	name
28874884	CV902218	single nucleotide variant	NM_004170.6(SLC1A1):c.472T>G (p.Cys158Gly)	Dicarboxylic aminoaciduria [RCV001165551]	uncertain significance	9	4566078	4566078	Human	1	name
28874889	CV902219	single nucleotide variant	NM_004170.6(SLC1A1):c.497G>A (p.Arg166His)	Dicarboxylic aminoaciduria [RCV001165553]	uncertain significance	9	4567682	4567682	Human	1	name
28879832	CV902221	single nucleotide variant	NM_004170.6(SLC1A1):c.578C>T (p.Ser193Phe)	Dicarboxylic aminoaciduria [RCV001167148]	uncertain significance	9	4567763	4567763	Human	1	name
28879848	CV902222	single nucleotide variant	NM_004170.6(SLC1A1):c.789G>C (p.Leu263Phe)	Dicarboxylic aminoaciduria [RCV001167152]\|not specified [RCV004032893]	uncertain significance	9	4573928	4573928	Human	1	name
28881781	CV902224	single nucleotide variant	NM_004170.6(SLC1A1):c.920T>C (p.Ile307Thr)	Dicarboxylic aminoaciduria [RCV001167728]\|SLC1A1-related disorder [RCV003908420]	likely benign\|uncertain significance	9	4576045	4576045	Human	1	name , trait , alternate_id
28881784	CV902225	single nucleotide variant	NM_004170.6(SLC1A1):c.944G>A (p.Arg315Gln)	Dicarboxylic aminoaciduria [RCV001167729]	uncertain significance	9	4576069	4576069	Human	1	name
28881787	CV902226	single nucleotide variant	NM_004170.6(SLC1A1):c.961G>A (p.Ala321Thr)	Dicarboxylic aminoaciduria [RCV001167730]\|not specified [RCV004857762]	uncertain significance	9	4576086	4576086	Human	1	name
9586907	CV165608	single nucleotide variant	NM_004170.6(SLC1A1):c.1333C>T (p.Arg445Trp)	Dicarboxylic aminoaciduria [RCV000143976]	pathogenic	9	4585316	4585316	Human	1	name
156328966	CV2213733	single nucleotide variant	NM_004170.6(SLC1A1):c.1015G>C (p.Val339Leu)	not specified [RCV004089805]	uncertain significance	9	4576585	4576585	Human		name
11051498	CV226649	single nucleotide variant	NM_004170.6(SLC1A1):c.1264G>A (p.Val422Met)	Cerebral visual impairment and intellectual disability [RCV000210380]	likely pathogenic	9	4583108	4583108	Human	1	name
156005402	CV2281530	single nucleotide variant	NM_004170.6(SLC1A1):c.1189A>C (p.Ile397Leu)	not specified [RCV004153840]	uncertain significance	9	4576759	4576759	Human		name
155937327	CV2379998	single nucleotide variant	NM_004170.6(SLC1A1):c.1025G>A (p.Arg342His)	not specified [RCV004222138]	uncertain significance	9	4576595	4576595	Human		name
156051094	CV2391218	single nucleotide variant	NM_004170.6(SLC1A1):c.1472T>A (p.Ile491Asn)	not specified [RCV004237233]	uncertain significance	9	4585455	4585455	Human		name
401898086	CV2780955	single nucleotide variant	NM_004170.6(SLC1A1):c.1078C>A (p.Pro360Thr)	not specified [RCV004354488]	uncertain significance	9	4576648	4576648	Human		name
401869654	CV2782439	single nucleotide variant	NM_004170.6(SLC1A1):c.1308C>G (p.Ile436Met)	not specified [RCV004365167]	uncertain significance	9	4583152	4583152	Human		name
11608700	CV308522	single nucleotide variant	NM_004170.6(SLC1A1):c.1483G>A (p.Glu495Lys)	Dicarboxylic aminoaciduria [RCV000358472]	uncertain significance	9	4585466	4585466	Human	1	name
11606850	CV318880	single nucleotide variant	NM_004170.6(SLC1A1):c.1087G>A (p.Ala363Thr)	Dicarboxylic aminoaciduria [RCV000336709]	uncertain significance	9	4576657	4576657	Human	1	name
11609148	CV318884	single nucleotide variant	NM_004170.6(SLC1A1):c.1231G>A (p.Val411Met)	Dicarboxylic aminoaciduria [RCV000364362]\|not specified [RCV004668910]	uncertain significance	9	4583075	4583075	Human	1	name
405712161	CV3314717	single nucleotide variant	NM_004170.6(SLC1A1):c.1136T>C (p.Val379Ala)	not specified [RCV004448637]	uncertain significance	9	4576706	4576706	Human		name
405712165	CV3314718	single nucleotide variant	NM_004170.6(SLC1A1):c.1199C>T (p.Thr400Met)	not specified [RCV004448638]	uncertain significance	9	4583043	4583043	Human		name
405712170	CV3314719	single nucleotide variant	NM_004170.6(SLC1A1):c.1301C>A (p.Thr434Asn)	not specified [RCV004448639]	uncertain significance	9	4583145	4583145	Human		name
405712178	CV3314720	single nucleotide variant	NM_004170.6(SLC1A1):c.1462G>A (p.Glu488Lys)	not specified [RCV004448640]	uncertain significance	9	4585445	4585445	Human		name
407507213	CV3496252	single nucleotide variant	NM_004170.6(SLC1A1):c.1285C>T (p.Pro429Ser)	not provided [RCV004698093]	uncertain significance	9	4583129	4583129	Human		name
597677017	CV3596384	single nucleotide variant	NM_004170.6(SLC1A1):c.1078C>T (p.Pro360Ser)	not specified [RCV004857026]	uncertain significance	9	4576648	4576648	Human		name
598269104	CV3921772	single nucleotide variant	NM_004170.6(SLC1A1):c.1418T>A (p.Met473Lys)	not specified [RCV005281898]	uncertain significance	9	4585401	4585401	Human		name
12913203	CV421761	single nucleotide variant	NM_004170.6(SLC1A1):c.1097A>C (p.Asn366Thr)	not provided [RCV000493521]	uncertain significance	9	4576667	4576667	Human		name
13832454	CV582949	single nucleotide variant	NM_004170.6(SLC1A1):c.1066C>T (p.Arg356Ter)	not provided [RCV000723143]	uncertain significance	9	4576636	4576636	Human		name
15148702	CV723588	single nucleotide variant	NM_004170.6(SLC1A1):c.1442T>A (p.Ile481Asn)	not provided [RCV000879012]	benign	9	4585425	4585425	Human		name
28875101	CV902229	single nucleotide variant	NM_004170.6(SLC1A1):c.1346T>C (p.Met449Thr)	Dicarboxylic aminoaciduria [RCV001165631]\|Dicarboxylic aminoaciduria [RCV005039985]\|not specified [RCV004032880]	uncertain significance	9	4585329	4585329	Human	1	name
9586941	CV165609	microsatellite	NM_004170.6(SLC1A1):c.1181TCA[1] (p.Ile395del)	Dicarboxylic aminoaciduria [RCV000143977]\|Dicarboxylic aminoaciduria [RCV005042281]	pathogenic\|likely pathogenic	9	4576750	4576752	Human		name
13832112	CV582603	microsatellite	NM_004170.6(SLC1A1):c.1399AAG[1] (p.Lys468del)	not provided [RCV000722795]	uncertain significance	9	4585382	4585384	Human		name

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