Amhr2 Variant Search Result - Rat Genome Database

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145 records found for search term Amhr2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150446383	CV1271860	single nucleotide variant	NM_020547.3(AMHR2):c.*68T>C	not provided [RCV001691274]	benign	12	53431541	53431541	Human		name
598190613	CV4008859	duplication	NM_020547.3(AMHR2):c.49+2dup	Persistent Mullerian duct syndrome [RCV005396358]	likely pathogenic	12	53423984	53423985	Human	1	name
126740337	CV1021077	single nucleotide variant	NM_020547.3(AMHR2):c.233-1G>A	Persistent Mullerian duct syndrome [RCV001335975]	pathogenic	12	53424708	53424708	Human		name
8560588	CV23665	single nucleotide variant	NM_020547.3(AMHR2):c.232+1G>A	Persistent mullerian duct syndrome, type II [RCV000009158]	pathogenic	12	53424471	53424471	Human	1	name
405091334	CV3122622	single nucleotide variant	NM_020547.3(AMHR2):c.49+14G>C	not provided [RCV003811187]	likely benign	12	53423997	53423997	Human		name
598224869	CV3894175	single nucleotide variant	NM_020547.3(AMHR2):c.50-30A>G	not provided [RCV005257418]	uncertain significance	12	53424258	53424258	Human		name
598190620	CV4008860	single nucleotide variant	NM_020547.3(AMHR2):c.622-1G>A	Persistent Mullerian duct syndrome [RCV005396359]	likely pathogenic	12	53425688	53425688	Human	1	name
13533951	CV512856	single nucleotide variant	NM_020547.3(AMHR2):c.622-6C>T	Persistent Mullerian duct syndrome [RCV000625000]\|not provided [RCV001644711]	benign	12	53425683	53425683	Human	1	name
150491302	CV1225281	single nucleotide variant	NM_020547.3(AMHR2):c.49+149T>A	not provided [RCV001618796]	benign	12	53424132	53424132	Human		name
150460389	CV1231332	single nucleotide variant	NM_020547.3(AMHR2):c.425-29C>T	not provided [RCV001640897]	benign	12	53425136	53425136	Human		name
150468856	CV1259560	single nucleotide variant	NM_020547.3(AMHR2):c.232+33A>G	not provided [RCV001683860]	benign	12	53424503	53424503	Human		name
150445396	CV1261191	single nucleotide variant	NM_020547.3(AMHR2):c.967+90G>A	not provided [RCV001679865]	benign	12	53429100	53429100	Human		name
150454511	CV1266020	single nucleotide variant	NM_020547.3(AMHR2):c.853-10G>A	not provided [RCV001692597]	benign	12	53428886	53428886	Human		name
150497135	CV1271677	single nucleotide variant	NM_020547.3(AMHR2):c.50-116C>A	not provided [RCV001688978]	benign	12	53424172	53424172	Human		name
405209292	CV2866896	single nucleotide variant	NM_020547.3(AMHR2):c.502+10C>T	not provided [RCV003552365]	likely benign	12	53425252	53425252	Human		name
405085670	CV3028376	single nucleotide variant	NM_020547.3(AMHR2):c.1141-3C>T	not provided [RCV003699381]	likely benign	12	53429828	53429828	Human		name
405167476	CV3153601	single nucleotide variant	NM_020547.3(AMHR2):c.1140+6T>C	not provided [RCV003841146]	likely pathogenic	12	53429631	53429631	Human		name
405210012	CV3162701	single nucleotide variant	NM_020547.3(AMHR2):c.232+18T>C	not provided [RCV003862000]	likely benign	12	53424488	53424488	Human		name
597725962	CV3710513	single nucleotide variant	NM_020547.3(AMHR2):c.622-47C>T	Persistent Mullerian duct syndrome [RCV005011409]	uncertain significance	12	53425642	53425642	Human	1	name
597896564	CV3740416	single nucleotide variant	NM_020547.3(AMHR2):c.853-11C>T	not provided [RCV005071769]	likely benign	12	53428885	53428885	Human		name
150506778	CV1226429	single nucleotide variant	NM_020547.3(AMHR2):c.852+334T>C	not provided [RCV001635797]	benign	12	53426253	53426253	Human		name
150514505	CV1228538	single nucleotide variant	NM_020547.3(AMHR2):c.1425+77A>G	not provided [RCV001638525]	benign	12	53430359	53430359	Human		name
150483684	CV1280265	single nucleotide variant	NM_020547.3(AMHR2):c.967+198T>C	not provided [RCV001715229]	benign	12	53429208	53429208	Human		name
152047518	CV1653991	single nucleotide variant	NM_020547.3(AMHR2):c.1288+11G>A	not provided [RCV002088724]	likely benign	12	53429989	53429989	Human		name
156167517	CV1971586	single nucleotide variant	NM_020547.3(AMHR2):c.1425+17G>C	not provided [RCV002594670]	likely benign	12	53430299	53430299	Human		name
156177084	CV1978614	single nucleotide variant	NM_020547.3(AMHR2):c.1141-17C>T	not provided [RCV002594951]	likely benign	12	53429814	53429814	Human		name
405180528	CV3119863	single nucleotide variant	NM_020547.3(AMHR2):c.1141-16G>A	not provided [RCV003819956]	likely benign	12	53429815	53429815	Human		name
150433940	CV1217051	single nucleotide variant	NM_020547.3(AMHR2):c.1425+342C>T	not provided [RCV001608953]	benign	12	53430624	53430624	Human		name
150455401	CV1277788	single nucleotide variant	NM_020547.3(AMHR2):c.1426-217A>G	not provided [RCV001708965]	benign	12	53430960	53430960	Human		name
151354275	CV1329408	single nucleotide variant	NM_020547.3(AMHR2):c.3G>A (p.Met1Ile)	not provided [RCV001817771]	pathogenic	12	53423937	53423937	Human		name
127234450	CV1108908	deletion	NM_020547.3(AMHR2):c.43del (p.Val15fs)	Persistent Mullerian duct syndrome [RCV001449739]	likely pathogenic	12	53423977	53423977	Human	1	name
401932181	CV2807054	single nucleotide variant	NM_020547.3(AMHR2):c.219G>A (p.Gln73=)	not provided [RCV003391858]	likely benign	12	53424457	53424457	Human		name
405224161	CV2887547	single nucleotide variant	NM_020547.3(AMHR2):c.171C>T (p.Tyr57=)	not provided [RCV003554291]	benign	12	53424409	53424409	Human		name
405813793	CV3276327	single nucleotide variant	NM_020547.3(AMHR2):c.23G>C (p.Trp8Ser)	Inborn genetic diseases [RCV004409563]	uncertain significance	12	53423957	53423957	Human	1	name
597725932	CV3710508	deletion	NM_020547.3(AMHR2):c.78del (p.Phe27fs)	Persistent Mullerian duct syndrome [RCV005011405]	pathogenic	12	53424316	53424316	Human	1	name
15178722	CV738741	single nucleotide variant	NM_020547.3(AMHR2):c.211C>A (p.Arg71=)	not provided [RCV000906940]	likely benign	12	53424449	53424449	Human		name
15134923	CV784427	single nucleotide variant	NM_020547.3(AMHR2):c.237C>T (p.Cys79=)	not provided [RCV000981833]	likely benign	12	53424713	53424713	Human		name
127271218	CV1062680	duplication	NM_020547.3(AMHR2):c.128dup (p.Asp44fs)	not provided [RCV001390084]	pathogenic	12	53424365	53424366	Human		name
127315966	CV1122744	single nucleotide variant	NM_020547.3(AMHR2):c.97C>T (p.Arg33Trp)	Inborn genetic diseases [RCV004038640]\|not provided [RCV001465373]	likely benign\|uncertain significance	12	53424335	53424335	Human	1	name
150431605	CV1245963	single nucleotide variant	NM_020547.3(AMHR2):c.55C>G (p.Pro19Ala)	Genetic non-acquired premature ovarian failure [RCV001663377]	likely pathogenic	12	53424293	53424293	Human	2	name
151356456	CV1329220	single nucleotide variant	NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter)	Persistent Mullerian duct syndrome [RCV005006079]\|not provided [RCV001822809]	pathogenic\|likely pathogenic	12	53424302	53424302	Human	1	name
156204786	CV2092669	single nucleotide variant	NM_020547.3(AMHR2):c.903C>T (p.Ser301=)	AMHR2-related disorder [RCV003973525]\|not provided [RCV002917921]	benign\|likely benign	12	53428946	53428946	Human	1	name , trait , alternate_id
405094348	CV3022750	single nucleotide variant	NM_020547.3(AMHR2):c.507G>C (p.Leu169=)	not provided [RCV003699963]	likely benign	12	53425459	53425459	Human		name
405090326	CV3044758	single nucleotide variant	NM_020547.3(AMHR2):c.657C>T (p.Ala219=)	not provided [RCV003717772]	likely benign	12	53425724	53425724	Human		name
404982032	CV3179657	single nucleotide variant	NM_020547.3(AMHR2):c.918G>A (p.Leu306=)	not provided [RCV003880638]	likely benign	12	53428961	53428961	Human		name
597836221	CV3757647	single nucleotide variant	NM_020547.3(AMHR2):c.849C>T (p.Pro283=)	not provided [RCV005085661]	likely benign	12	53425916	53425916	Human		name
597854907	CV3762602	single nucleotide variant	NM_020547.3(AMHR2):c.82G>C (p.Glu28Gln)	not specified [RCV005088520]	uncertain significance	12	53424320	53424320	Human		name
597944590	CV3812558	deletion	NM_020547.3(AMHR2):c.175del (p.Arg59fs)	not provided [RCV005159768]	pathogenic	12	53424412	53424412	Human		name
15189756	CV738742	single nucleotide variant	NM_020547.3(AMHR2):c.762C>T (p.His254=)	AMHR2-related disorder [RCV003950711]\|not provided [RCV000909747]	likely benign	12	53425829	53425829	Human	1	name , trait , alternate_id
8634748	CV89968	single nucleotide variant	NM_020547.2(AMHR2):c.705G>A (p.Arg235=)	Malignant melanoma [RCV000070065]	not provided	12	53425772	53425772	Human		name
127292332	CV1162018	deletion	NM_020547.3(AMHR2):c.649del (p.Val217fs)	Persistent Mullerian duct syndrome [RCV003446811]	pathogenic	12	53425715	53425715	Human	1	name
150510652	CV1211809	single nucleotide variant	NM_020547.3(AMHR2):c.1038G>A (p.Ser346=)	not provided [RCV001597705]	benign	12	53429523	53429523	Human		name
151355588	CV1328655	single nucleotide variant	NM_020547.3(AMHR2):c.170A>G (p.Tyr57Cys)	not specified [RCV001820660]	uncertain significance	12	53424408	53424408	Human		name
152127427	CV1545094	single nucleotide variant	NM_020547.3(AMHR2):c.1054C>T (p.Leu352=)	not provided [RCV002155063]	likely benign	12	53429539	53429539	Human		name
155267863	CV1701413	single nucleotide variant	NM_020547.3(AMHR2):c.238C>T (p.Arg80Ter)	Persistent Mullerian duct syndrome [RCV002283638]	pathogenic	12	53424714	53424714	Human	1	name
155746970	CV1778094	single nucleotide variant	NM_020547.3(AMHR2):c.205C>G (p.Gln69Glu)	not provided [RCV002303473]	uncertain significance	12	53424443	53424443	Human		name
156380956	CV2219069	single nucleotide variant	NM_020547.3(AMHR2):c.212G>A (p.Arg71Gln)	Inborn genetic diseases [RCV002678689]	likely benign	12	53424450	53424450	Human	1	name
156058812	CV2322963	single nucleotide variant	NM_020547.3(AMHR2):c.203C>A (p.Thr68Asn)	Inborn genetic diseases [RCV002950550]	uncertain significance	12	53424441	53424441	Human	1	name
8560590	CV23667	deletion	NM_020547.3(AMHR2):c.596del (p.Glu199fs)	Persistent mullerian duct syndrome, type II [RCV000009160]	pathogenic	12	53425548	53425548	Human	1	name
405089928	CV2859196	single nucleotide variant	NM_020547.3(AMHR2):c.1626C>A (p.Leu542=)	Inborn genetic diseases [RCV004985386]\|not provided [RCV003549766]	benign\|likely benign	12	53431377	53431377	Human	1	name
405813766	CV3276315	single nucleotide variant	NM_020547.3(AMHR2):c.161G>A (p.Arg54His)	Inborn genetic diseases [RCV004409551]	uncertain significance	12	53424399	53424399	Human	1	name
408382154	CV3525594	single nucleotide variant	NM_020547.3(AMHR2):c.160C>T (p.Arg54Cys)	Persistent Mullerian duct syndrome [RCV004766503]	likely pathogenic	12	53424398	53424398	Human	1	name
597725940	CV3710509	single nucleotide variant	NM_020547.3(AMHR2):c.229C>T (p.Gln77Ter)	Persistent Mullerian duct syndrome [RCV005011406]	likely pathogenic	12	53424467	53424467	Human	1	name
597725947	CV3710510	single nucleotide variant	NM_020547.3(AMHR2):c.289C>T (p.Arg97Ter)	Persistent Mullerian duct syndrome [RCV005011407]	pathogenic	12	53424765	53424765	Human	1	name
597840698	CV3756127	single nucleotide variant	NM_020547.3(AMHR2):c.1047T>C (p.Ile349=)	not provided [RCV005086399]	benign	12	53429532	53429532	Human		name
597831525	CV3759778	single nucleotide variant	NM_020547.3(AMHR2):c.1599T>C (p.Cys533=)	not provided [RCV005084716]	likely benign	12	53431350	53431350	Human		name
597837716	CV3828853	single nucleotide variant	NM_020547.3(AMHR2):c.220G>A (p.Val74Met)	not provided [RCV005171546]	uncertain significance	12	53424458	53424458	Human		name
598194478	CV3979443	single nucleotide variant	NM_020547.3(AMHR2):c.286C>A (p.Pro96Thr)	Inborn genetic diseases [RCV005354833]	uncertain significance	12	53424762	53424762	Human	1	name
598194543	CV3979463	single nucleotide variant	NM_020547.3(AMHR2):c.241G>A (p.Asp81Asn)	Inborn genetic diseases [RCV005354843]	uncertain significance	12	53424717	53424717	Human	1	name
598160785	CV3979473	single nucleotide variant	NM_020547.3(AMHR2):c.188G>C (p.Gly63Ala)	Inborn genetic diseases [RCV005368308]	uncertain significance	12	53424426	53424426	Human	1	name
13217074	CV429440	single nucleotide variant	NM_020547.3(AMHR2):c.176G>A (p.Arg59His)	Inborn genetic diseases [RCV002527187]\|not specified [RCV000504416]	likely benign	12	53424414	53424414	Human	1	name
13214524	CV429441	single nucleotide variant	NM_020547.3(AMHR2):c.1062T>G (p.Leu354=)	not specified [RCV000501074]	likely benign	12	53429547	53429547	Human		name
150512902	CV1245934	single nucleotide variant	NM_020547.3(AMHR2):c.775C>T (p.Arg259Ter)	Genetic non-acquired premature ovarian failure [RCV001661764]\|Persistent Mullerian duct syndrome [RCV005232643]	pathogenic	12	53425842	53425842	Human	3	name
150512903	CV1245935	single nucleotide variant	NM_020547.3(AMHR2):c.515G>A (p.Arg172Gln)	Genetic non-acquired premature ovarian failure [RCV001661765]	likely pathogenic	12	53425467	53425467	Human	2	name
150431608	CV1245965	single nucleotide variant	NM_020547.3(AMHR2):c.355A>G (p.Asn119Asp)	Genetic non-acquired premature ovarian failure [RCV001663379]	likely pathogenic	12	53424831	53424831	Human	2	name
150555307	CV1297754	single nucleotide variant	NM_020547.3(AMHR2):c.322A>C (p.Thr108Pro)	not provided [RCV001772661]	uncertain significance	12	53424798	53424798	Human		name
150555316	CV1297763	single nucleotide variant	NM_020547.3(AMHR2):c.778T>A (p.Phe260Ile)	not provided [RCV001772671]	uncertain significance	12	53425845	53425845	Human		name
151847117	CV1439613	single nucleotide variant	NM_020547.3(AMHR2):c.658G>C (p.Gly220Arg)	not provided [RCV002016076]	uncertain significance	12	53425725	53425725	Human		name
151829942	CV1465579	single nucleotide variant	NM_020547.3(AMHR2):c.416C>T (p.Ala139Val)	not provided [RCV002014213]	uncertain significance	12	53424892	53424892	Human		name
156308356	CV2109322	single nucleotide variant	NM_020547.3(AMHR2):c.701C>T (p.Pro234Leu)	Inborn genetic diseases [RCV004067108]\|not provided [RCV002922933]	likely benign\|uncertain significance	12	53425768	53425768	Human	1	name
156134595	CV2109413	single nucleotide variant	NM_020547.3(AMHR2):c.503C>T (p.Ala168Val)	not provided [RCV002914677]	likely benign	12	53425455	53425455	Human		name
155911049	CV2141626	single nucleotide variant	NM_020547.3(AMHR2):c.808C>T (p.Arg270Cys)	not provided [RCV002968054]	uncertain significance	12	53425875	53425875	Human		name
156233629	CV2245275	single nucleotide variant	NM_020547.3(AMHR2):c.595G>C (p.Glu199Gln)	Inborn genetic diseases [RCV002767815]	uncertain significance	12	53425547	53425547	Human	1	name
156364783	CV2271992	single nucleotide variant	NM_020547.3(AMHR2):c.985A>G (p.Ile329Val)	Inborn genetic diseases [RCV002813375]	uncertain significance	12	53429470	53429470	Human	1	name
156275635	CV2280065	single nucleotide variant	NM_020547.3(AMHR2):c.661C>G (p.Gln221Glu)	Inborn genetic diseases [RCV002832586]	uncertain significance	12	53425728	53425728	Human	1	name
156150128	CV2307458	single nucleotide variant	NM_020547.3(AMHR2):c.745C>A (p.Leu249Ile)	Inborn genetic diseases [RCV002915330]	uncertain significance	12	53425812	53425812	Human	1	name
156155031	CV2314263	single nucleotide variant	NM_020547.3(AMHR2):c.547C>T (p.Pro183Ser)	Inborn genetic diseases [RCV002915621]	uncertain significance	12	53425499	53425499	Human	1	name
155955414	CV2389944	single nucleotide variant	NM_020547.3(AMHR2):c.322A>T (p.Thr108Ser)	Inborn genetic diseases [RCV002753471]	uncertain significance	12	53424798	53424798	Human	1	name
329359206	CV2450921	single nucleotide variant	NM_020547.3(AMHR2):c.731G>A (p.Arg244Lys)	Inborn genetic diseases [RCV003204391]	uncertain significance	12	53425798	53425798	Human	1	name
401765026	CV2701731	single nucleotide variant	NM_020547.3(AMHR2):c.968G>A (p.Gly323Asp)	Inborn genetic diseases [RCV003282103]	uncertain significance	12	53429453	53429453	Human	1	name
401870071	CV2772610	single nucleotide variant	NM_020547.3(AMHR2):c.895G>C (p.Gly299Arg)	Inborn genetic diseases [RCV003346007]	uncertain significance	12	53428938	53428938	Human	1	name
401862502	CV2775334	single nucleotide variant	NM_020547.3(AMHR2):c.356A>C (p.Asn119Thr)	Inborn genetic diseases [RCV003343256]	uncertain significance	12	53424832	53424832	Human	1	name
405218664	CV3143876	single nucleotide variant	NM_020547.3(AMHR2):c.695T>G (p.Phe232Cys)	not provided [RCV003846847]	uncertain significance	12	53425762	53425762	Human		name
405813839	CV3276348	single nucleotide variant	NM_020547.3(AMHR2):c.707C>A (p.Ser236Tyr)	Inborn genetic diseases [RCV004409584]	uncertain significance	12	53425774	53425774	Human	1	name
407493329	CV3446314	single nucleotide variant	NM_020547.3(AMHR2):c.908G>A (p.Arg303Gln)	Inborn genetic diseases [RCV004642708]	uncertain significance	12	53428951	53428951	Human	1	name
407493356	CV3446323	single nucleotide variant	NM_020547.3(AMHR2):c.583G>A (p.Val195Met)	Inborn genetic diseases [RCV004642715]	uncertain significance	12	53425535	53425535	Human	1	name
407454526	CV3495353	single nucleotide variant	NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter)	Persistent Mullerian duct syndrome [RCV004691663]	pathogenic\|likely pathogenic	12	53425466	53425466	Human	1	name
407573864	CV3498213	single nucleotide variant	NM_020547.3(AMHR2):c.846T>G (p.His282Gln)	not specified [RCV004702687]	uncertain significance	12	53425913	53425913	Human		name
407573891	CV3498240	single nucleotide variant	NM_020547.3(AMHR2):c.997G>T (p.Asp333Tyr)	not specified [RCV004702714]	uncertain significance	12	53429482	53429482	Human		name
408383990	CV3525883	single nucleotide variant	NM_020547.3(AMHR2):c.352G>A (p.Ala118Thr)	not specified [RCV004766793]	uncertain significance	12	53424828	53424828	Human		name
597687158	CV3701183	single nucleotide variant	NM_020547.3(AMHR2):c.322A>G (p.Thr108Ala)	Inborn genetic diseases [RCV004984226]	uncertain significance	12	53424798	53424798	Human	1	name
597725970	CV3710514	duplication	NM_020547.3(AMHR2):c.1175dup (p.Leu392fs)	Persistent Mullerian duct syndrome [RCV005011410]	likely pathogenic	12	53429863	53429864	Human	1	name
12849449	CV372448	single nucleotide variant	NM_020547.3(AMHR2):c.502G>A (p.Ala168Thr)	not provided [RCV000430189]	pathogenic\|likely pathogenic	12	53425242	53425242	Human		name
597954599	CV3754082	deletion	NM_020547.3(AMHR2):c.1106del (p.Pro369fs)	not provided [RCV005080125]	pathogenic	12	53429588	53429588	Human		name
597874804	CV3766220	single nucleotide variant	NM_020547.3(AMHR2):c.907C>T (p.Arg303Trp)	not provided [RCV005108352]	uncertain significance	12	53428950	53428950	Human		name
598124365	CV3885177	single nucleotide variant	NM_020547.3(AMHR2):c.762C>G (p.His254Gln)	not specified [RCV005239754]	uncertain significance	12	53425829	53425829	Human		name
598125845	CV3885646	single nucleotide variant	NM_020547.3(AMHR2):c.796G>C (p.Gly266Arg)	not specified [RCV005241159]	uncertain significance	12	53425863	53425863	Human		name
14978083	CV677242	single nucleotide variant	NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter)	Male pseudohermaphroditism [RCV000850306]\|Persistent Mullerian duct syndrome [RCV001785743]	pathogenic\|likely pathogenic	12	53429479	53429479	Human	3	name
8627321	CV82465	single nucleotide variant	NM_020547.2(AMHR2):c.742G>A (p.Glu248Lys)	Malignant melanoma [RCV000062544]	not provided	12	53425809	53425809	Human		name
127323310	CV1143602	single nucleotide variant	NM_020547.3(AMHR2):c.1643G>A (p.Arg548Gln)	not provided [RCV001485200]	likely benign	12	53431394	53431394	Human		name
127292335	CV1162019	single nucleotide variant	NM_020547.3(AMHR2):c.1483C>T (p.Arg495Trp)	Persistent Mullerian duct syndrome [RCV003446812]	likely pathogenic	12	53431234	53431234	Human	1	name
151354276	CV1329409	single nucleotide variant	NM_020547.3(AMHR2):c.1216C>T (p.Arg406Ter)	not provided [RCV001817772]	pathogenic	12	53429906	53429906	Human		name
151793287	CV1390269	single nucleotide variant	NM_020547.3(AMHR2):c.1424C>T (p.Thr475Ile)	not provided [RCV001952248]	uncertain significance	12	53430281	53430281	Human		name
151852676	CV1455896	single nucleotide variant	NM_020547.3(AMHR2):c.1686G>C (p.Arg562Ser)	not provided [RCV002033384]	uncertain significance	12	53431437	53431437	Human		name
151840784	CV1463010	single nucleotide variant	NM_020547.3(AMHR2):c.1504C>T (p.Gln502Ter)	not provided [RCV002031793]	pathogenic\|likely pathogenic	12	53431255	53431255	Human		name
155269031	CV1705861	single nucleotide variant	NM_020547.3(AMHR2):c.1340C>T (p.Thr447Ile)	Persistent Mullerian duct syndrome [RCV002286517]	pathogenic	12	53430197	53430197	Human	1	name
155796937	CV1859182	single nucleotide variant	NM_020547.3(AMHR2):c.1101G>T (p.Trp367Cys)	Inborn genetic diseases [RCV004067548]\|not provided [RCV002464810]	uncertain significance	12	53429586	53429586	Human	1	name
156380048	CV1903518	single nucleotide variant	NM_020547.3(AMHR2):c.1511G>A (p.Arg504His)	not provided [RCV003093199]	likely pathogenic\|uncertain significance	12	53431262	53431262	Human		name
156394808	CV1983710	single nucleotide variant	NM_020547.3(AMHR2):c.1634G>C (p.Arg545Thr)	Inborn genetic diseases [RCV002605040]\|not provided [RCV002605039]	uncertain significance	12	53431385	53431385	Human	1	name
156041018	CV1999022	single nucleotide variant	NM_020547.3(AMHR2):c.1295G>A (p.Ser432Asn)	Inborn genetic diseases [RCV002659038]\|not provided [RCV002659037]	uncertain significance	12	53430152	53430152	Human	1	name
156232172	CV2039805	single nucleotide variant	NM_020547.3(AMHR2):c.1652G>A (p.Cys551Tyr)	Inborn genetic diseases [RCV005351016]\|not provided [RCV002805355]	uncertain significance	12	53431403	53431403	Human	1	name
156329341	CV2213820	single nucleotide variant	NM_020547.3(AMHR2):c.1591G>C (p.Glu531Gln)	Inborn genetic diseases [RCV002673114]	uncertain significance	12	53431342	53431342	Human	1	name
156333838	CV2214666	single nucleotide variant	NM_020547.3(AMHR2):c.1429C>T (p.Pro477Ser)	Inborn genetic diseases [RCV002673641]	uncertain significance	12	53431180	53431180	Human	1	name
155953051	CV2264301	single nucleotide variant	NM_020547.3(AMHR2):c.1411C>T (p.Arg471Cys)	Inborn genetic diseases [RCV002840564]	likely benign	12	53430268	53430268	Human	1	name
155902954	CV2274798	single nucleotide variant	NM_020547.3(AMHR2):c.1346C>T (p.Thr449Ile)	Inborn genetic diseases [RCV002836779]	uncertain significance	12	53430203	53430203	Human	1	name
156268457	CV2296872	single nucleotide variant	NM_020547.3(AMHR2):c.1420G>A (p.Ala474Thr)	Inborn genetic diseases [RCV002855866]	likely benign	12	53430277	53430277	Human	1	name
156161937	CV2311779	single nucleotide variant	NM_020547.3(AMHR2):c.1297C>T (p.Pro433Ser)	Inborn genetic diseases [RCV002916042]	uncertain significance	12	53430154	53430154	Human	1	name
8598011	CV23668	single nucleotide variant	NM_020547.3(AMHR2):c.1217G>A (p.Arg406Gln)	Persistent mullerian duct syndrome, type II [RCV000009161]\|not provided [RCV002512932]	pathogenic\|likely pathogenic	12	53429907	53429907	Human	1	name
156093644	CV2389727	single nucleotide variant	NM_020547.3(AMHR2):c.1382G>T (p.Arg461Met)	Inborn genetic diseases [RCV002784469]	uncertain significance	12	53430239	53430239	Human	1	name
401772241	CV2687459	single nucleotide variant	NM_020547.3(AMHR2):c.1647T>A (p.Ser549Arg)	Inborn genetic diseases [RCV003284975]	uncertain significance	12	53431398	53431398	Human	1	name
401867273	CV2748817	single nucleotide variant	NM_020547.3(AMHR2):c.1510C>T (p.Arg504Cys)	Persistent Mullerian duct syndrome [RCV003331639]	pathogenic	12	53431261	53431261	Human	1	name
405124406	CV3043351	single nucleotide variant	NM_020547.3(AMHR2):c.1024C>T (p.Arg342Trp)	not provided [RCV003724229]\|not specified [RCV004701800]	likely pathogenic\|uncertain significance	12	53429509	53429509	Human		name
405124417	CV3043352	single nucleotide variant	NM_020547.3(AMHR2):c.1412G>A (p.Arg471His)	Persistent Mullerian duct syndrome [RCV005407227]\|not provided [RCV003724230]	pathogenic\|likely pathogenic	12	53430269	53430269	Human	1	name
405813709	CV3276289	single nucleotide variant	NM_020547.3(AMHR2):c.1013A>G (p.Asn338Ser)	Inborn genetic diseases [RCV004409525]	uncertain significance	12	53429498	53429498	Human	1	name
405813725	CV3276296	single nucleotide variant	NM_020547.3(AMHR2):c.1159A>G (p.Met387Val)	Inborn genetic diseases [RCV004409532]	uncertain significance	12	53429849	53429849	Human	1	name
405813733	CV3276300	single nucleotide variant	NM_020547.3(AMHR2):c.1268G>A (p.Arg423His)	Inborn genetic diseases [RCV004409536]	uncertain significance	12	53429958	53429958	Human	1	name
407493307	CV3446308	single nucleotide variant	NM_020547.3(AMHR2):c.1663G>A (p.Val555Ile)	Inborn genetic diseases [RCV004642702]	uncertain significance	12	53431414	53431414	Human	1	name
12742448	CV360131	single nucleotide variant	NM_020547.3(AMHR2):c.1387C>T (p.Arg463Cys)	AMHR2-related disorder [RCV003418097]\|not provided [RCV000413691]	pathogenic\|likely pathogenic	12	53430244	53430244	Human	1	name , trait , alternate_id
597966436	CV3859108	single nucleotide variant	NM_020547.3(AMHR2):c.1034G>A (p.Gly345Glu)	not provided [RCV005194503]	uncertain significance	12	53429519	53429519	Human		name
598217967	CV3895423	single nucleotide variant	NM_020547.3(AMHR2):c.1219C>T (p.Arg407Ter)	Persistent Mullerian duct syndrome [RCV005360302]	pathogenic	12	53429909	53429909	Human	1	name
14399898	CV610461	single nucleotide variant	NM_020547.3(AMHR2):c.1280T>G (p.Leu427Trp)	Premature ovarian insufficiency [RCV000766172]	uncertain significance	12	53429970	53429970	Human	2	name
404986249	CV3135433	deletion	NM_020547.3(AMHR2):c.118_119del (p.Gly40fs)	not provided [RCV003826728]	pathogenic	12	53424355	53424356	Human		name
8560589	CV23666	deletion	NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del)	Persistent Mullerian duct syndrome [RCV002286396]\|Persistent mullerian duct syndrome, type II [RCV000009159]\|not provided [RCV002512931]	pathogenic	12	53430187	53430213	Human	1	name
597952983	CV3798871	microsatellite	NM_020547.3(AMHR2):c.261_262del (p.Cys87_Glu88delinsTer)	not provided [RCV005136445]	pathogenic	12	53424735	53424736	Human		name
597725954	CV3710511	indel	NM_020547.3(AMHR2):c.402_422delinsAGGTAGCCACCCA (p.Gln135fs)	Persistent Mullerian duct syndrome [RCV005011408]	likely pathogenic	12	53424878	53424898	Human		name

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