Znhit3 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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36 records found for search term Znhit3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15161719	CV731145	single nucleotide variant	NM_004773.4(ZNHIT3):c.86+9G>A	not provided [RCV000881622]	benign	17	36486794	36486794	Human		name
15142555	CV715395	single nucleotide variant	NM_004773.4(ZNHIT3):c.21C>T (p.Ser7=)	PEHO syndrome [RCV002503038]\|ZNHIT3-related disorder [RCV003916215]\|not provided [RCV000966510]	benign\|likely benign	17	36486720	36486720	Human	1	name , trait , alternate_id
126736905	CV1021627	single nucleotide variant	NM_004773.4(ZNHIT3):c.7T>A (p.Ser3Thr)	PEHO syndrome [RCV001335189]	uncertain significance	17	36486706	36486706	Human	1	name
15194349	CV755799	single nucleotide variant	NM_004773.4(ZNHIT3):c.84C>T (p.Pro28=)	not provided [RCV000911099]	likely benign	17	36486783	36486783	Human		name
156220440	CV2393737	single nucleotide variant	NM_004773.4(ZNHIT3):c.17G>A (p.Cys6Tyr)	Inborn genetic diseases [RCV002744693]	uncertain significance	17	36486716	36486716	Human	1	name
401747311	CV2679062	single nucleotide variant	NM_004773.4(ZNHIT3):c.11T>C (p.Leu4Pro)	Inborn genetic diseases [RCV003252784]	uncertain significance	17	36486710	36486710	Human	1	name
405274047	CV3191093	duplication	NM_001281432.2(ZNHIT3):c.287-5_287-3dup	ZNHIT3-related disorder [RCV003921509]	likely benign	17	36497589	36497590	Human		name , trait , alternate_id
598273709	CV3942051	single nucleotide variant	NM_004773.4(ZNHIT3):c.13A>G (p.Lys5Glu)	Inborn genetic diseases [RCV005303457]	uncertain significance	17	36486712	36486712	Human	1	name
15147158	CV740702	single nucleotide variant	NM_004773.4(ZNHIT3):c.213T>C (p.Asp71=)	not provided [RCV000900459]	likely benign	17	36493933	36493933	Human		name
405675350	CV3354888	single nucleotide variant	NM_004773.4(ZNHIT3):c.73T>G (p.Cys25Gly)	Inborn genetic diseases [RCV004487515]	uncertain significance	17	36486772	36486772	Human	1	name
405675357	CV3354889	single nucleotide variant	NM_004773.4(ZNHIT3):c.80T>A (p.Val27Glu)	Inborn genetic diseases [RCV004487516]	uncertain significance	17	36486779	36486779	Human	1	name
597626414	CV3646048	single nucleotide variant	NM_004773.4(ZNHIT3):c.52C>T (p.Pro18Ser)	Inborn genetic diseases [RCV004965072]	uncertain significance	17	36486751	36486751	Human	1	name
598190395	CV4008830	single nucleotide variant	NM_004773.4(ZNHIT3):c.41G>T (p.Cys14Phe)	PEHO syndrome [RCV005396329]	likely pathogenic	17	36486740	36486740	Human	1	name
12911233	CV417248	single nucleotide variant	NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)	PEHO syndrome [RCV000490627]	pathogenic\|likely pathogenic\|likely benign	17	36486940	36486940	Human	1	name
156094889	CV2398886	single nucleotide variant	NM_004773.4(ZNHIT3):c.184G>A (p.Val62Ile)	Inborn genetic diseases [RCV002784538]	likely benign	17	36492878	36492878	Human	1	name
401720589	CV2701984	single nucleotide variant	NM_004773.4(ZNHIT3):c.116A>G (p.Lys39Arg)	Inborn genetic diseases [RCV003267273]	uncertain significance	17	36486964	36486964	Human	1	name
401893682	CV2760104	single nucleotide variant	NM_004773.4(ZNHIT3):c.270G>T (p.Gln90His)	Inborn genetic diseases [RCV003370827]	uncertain significance	17	36493990	36493990	Human	1	name
401897957	CV2769841	single nucleotide variant	NM_004773.4(ZNHIT3):c.220A>G (p.Ile74Val)	Inborn genetic diseases [RCV003376106]	likely benign	17	36493940	36493940	Human	1	name
405675341	CV3354886	single nucleotide variant	NM_004773.4(ZNHIT3):c.106C>T (p.Arg36Trp)	Inborn genetic diseases [RCV004487513]	uncertain significance	17	36486954	36486954	Human	1	name
405675346	CV3354887	single nucleotide variant	NM_004773.4(ZNHIT3):c.163T>C (p.Ser55Pro)	Inborn genetic diseases [RCV004487514]	uncertain significance	17	36492857	36492857	Human	1	name
407487283	CV3420907	single nucleotide variant	NM_004773.4(ZNHIT3):c.252A>C (p.Glu84Asp)	Inborn genetic diseases [RCV004603737]	uncertain significance	17	36493972	36493972	Human	1	name
407487288	CV3420908	single nucleotide variant	NM_004773.4(ZNHIT3):c.107G>T (p.Arg36Leu)	Inborn genetic diseases [RCV004603738]	uncertain significance	17	36486955	36486955	Human	1	name
597626419	CV3646050	single nucleotide variant	NM_004773.4(ZNHIT3):c.163T>A (p.Ser55Thr)	Inborn genetic diseases [RCV004965074]	uncertain significance	17	36492857	36492857	Human	1	name
598273707	CV3942050	single nucleotide variant	NM_004773.4(ZNHIT3):c.235A>C (p.Asn79His)	Inborn genetic diseases [RCV005303456]	uncertain significance	17	36493955	36493955	Human	1	name
598200350	CV3942052	single nucleotide variant	NM_004773.4(ZNHIT3):c.291A>C (p.Glu97Asp)	Inborn genetic diseases [RCV005314044]	uncertain significance	17	36495227	36495227	Human	1	name
40903273	CV975835	duplication	NM_004773.4(ZNHIT3):c.302dup (p.Leu101fs)	not specified [RCV001269218]	uncertain significance	17	36495236	36495237	Human		name
401751503	CV2727017	single nucleotide variant	NM_004773.4(ZNHIT3):c.362A>G (p.Glu121Gly)	Inborn genetic diseases [RCV003295516]	uncertain significance	17	36495298	36495298	Human	1	name
401888430	CV2784985	single nucleotide variant	NM_004773.4(ZNHIT3):c.361G>A (p.Glu121Lys)	Inborn genetic diseases [RCV003367801]	uncertain significance	17	36495297	36495297	Human	1	name
407487298	CV3420910	single nucleotide variant	NM_004773.4(ZNHIT3):c.391A>G (p.Met131Val)	Inborn genetic diseases [RCV004603740]	uncertain significance	17	36495327	36495327	Human	1	name
597626416	CV3646049	single nucleotide variant	NM_004773.4(ZNHIT3):c.385G>A (p.Ala129Thr)	Inborn genetic diseases [RCV004965073]	uncertain significance	17	36495321	36495321	Human	1	name
598200344	CV3942049	single nucleotide variant	NM_004773.4(ZNHIT3):c.352G>A (p.Asp118Asn)	Inborn genetic diseases [RCV005314043]	uncertain significance	17	36495288	36495288	Human	1	name
126736896	CV1021628	deletion	NM_004773.4(ZNHIT3):c.251_254del (p.Glu84fs)	PEHO syndrome [RCV001335187]	pathogenic	17	36493971	36493974	Human		name
126736901	CV1021629	deletion	NM_004773.4(ZNHIT3):c.253_254del (p.Asp85fs)	PEHO syndrome [RCV001335188]	pathogenic	17	36493972	36493973	Human		name
401918711	CV2794651	deletion	NM_004773.4(ZNHIT3):c.255_258del (p.Asp85fs)	not specified [RCV003388325]	uncertain significance	17	36493972	36493975	Human		name
407573313	CV3499026	deletion	NM_004773.4(ZNHIT3):c.255_256del (p.Asp85fs)	not specified [RCV004699996]	uncertain significance	17	36493974	36493975	Human		name
405279896	CV3216997	single nucleotide variant	NM_001281432.2(ZNHIT3):c.406C>T (p.Gln136Ter)	ZNHIT3-related disorder [RCV003979144]	benign	17	36497725	36497725	Human		name , trait , alternate_id

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