List of variants in gene NHS reported by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 116

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HGVS	dbSNP	gnomAD frequency
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu)	rs3747295	0.29823
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)	rs150688899	0.06491
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)	rs398124605	0.03116
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=)	rs56908561	0.02903
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=)	rs56691712	0.02899
NM_001291867.2(NHS):c.2831A>T (p.His944Leu)	rs149244552	0.00386
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu)	rs145977627	0.00189
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)	rs149609550	0.00131
NM_001291867.2(NHS):c.828G>A (p.Glu276=)	rs147497359	0.00096
NM_001291867.2(NHS):c.765C>G (p.Pro255=)	rs143119491	0.00086
NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln)	rs140904281	0.00075
NM_001291867.2(NHS):c.1965T>G (p.Pro655=)	rs151009077	0.00069
NM_001291867.2(NHS):c.204A>G (p.Pro68=)	rs775588477	0.00069
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn)	rs145200841	0.00056
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)	rs2071848	0.00055
NM_001291867.2(NHS):c.666C>T (p.Cys222=)	rs138104885	0.00055
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)	rs145005596	0.00053
NM_001291867.2(NHS):c.1596G>A (p.Glu532=)	rs146437542	0.00044
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)	rs141013518	0.00037
NM_001291867.2(NHS):c.1603G>A (p.Val535Met)	rs367856134	0.00028
NM_001291867.2(NHS):c.1748G>A (p.Arg583His)	rs143289369	0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=)	rs398124610	0.00028
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)	rs773995388	0.00026
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)	rs374462247	0.00020
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)	rs148418212	0.00019
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)	rs201263814	0.00016
NM_001291867.2(NHS):c.739C>T (p.Arg247Cys)	rs369785842	0.00016
NM_001291867.2(NHS):c.1723A>G (p.Lys575Glu)	rs199789055	0.00014
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)	rs375878222	0.00012
NM_001291867.2(NHS):c.2119G>T (p.Ala707Ser)	rs184275083	0.00012
NM_001291867.2(NHS):c.1760T>C (p.Met587Thr)	rs187739639	0.00011
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr)	rs762685365	0.00009
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)	rs370811549	0.00009
NM_001291867.2(NHS):c.766C>G (p.Leu256Val)	rs200598087	0.00009
NM_001291867.2(NHS):c.2909C>T (p.Thr970Met)	rs373464879	0.00008
NM_001291867.2(NHS):c.4082C>T (p.Ser1361Leu)	rs766379688	0.00008
NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln)	rs372969054	0.00007
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg)	rs371229391	0.00006
NM_001291867.2(NHS):c.2204G>A (p.Arg735His)	rs193921046	0.00006
NM_001291867.2(NHS):c.152C>T (p.Ala51Val)	rs727504039	0.00005
NM_001291867.2(NHS):c.618G>A (p.Pro206=)	rs200952266	0.00005
NM_001291867.2(NHS):c.966G>A (p.Pro322=)	rs745327335	0.00005
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp)	rs746433521	0.00002
NM_001291867.2(NHS):c.1469G>T (p.Gly490Val)	rs775816596	0.00002
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His)	rs141525588	0.00002
NM_001291867.2(NHS):c.484C>T (p.Arg162Cys)	rs745648326	0.00002
NM_001291867.2(NHS):c.1415T>C (p.Ile472Thr)	rs751213969	0.00001
NM_001291867.2(NHS):c.3262C>A (p.His1088Asn)	rs924426347	0.00001
NM_001291867.2(NHS):c.350C>T (p.Ala117Val)	rs764411401	0.00001
NM_001291867.2(NHS):c.49C>T (p.Arg17Trp)	rs794726963	0.00001
NM_001291867.2(NHS):c.546C>G (p.Asp182Glu)	rs759834255	0.00001
NM_001291867.2(NHS):c.692G>A (p.Arg231Gln)	rs757440505	0.00001
NM_001291867.2(NHS):c.100C>A (p.Pro34Thr)
NM_001291867.2(NHS):c.1040C>T (p.Thr347Met)
NM_001291867.2(NHS):c.1089T>C (p.Ile363=)
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter)	rs1556038028
NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn)
NM_001291867.2(NHS):c.1486C>A (p.Pro496Thr)
NM_001291867.2(NHS):c.1630G>T (p.Asp544Tyr)
NM_001291867.2(NHS):c.1648A>G (p.Ser550Gly)
NM_001291867.2(NHS):c.1691C>T (p.Ala564Val)
NM_001291867.2(NHS):c.176G>A (p.Arg59His)
NM_001291867.2(NHS):c.1806G>A (p.Thr602=)
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)
NM_001291867.2(NHS):c.189A>G (p.Ala63=)
NM_001291867.2(NHS):c.1941A>C (p.Glu647Asp)
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)	rs10590816
NM_001291867.2(NHS):c.2096C>T (p.Ala699Val)
NM_001291867.2(NHS):c.2225G>A (p.Arg742His)
NM_001291867.2(NHS):c.2409C>T (p.His803=)
NM_001291867.2(NHS):c.2547G>C (p.Pro849=)
NM_001291867.2(NHS):c.2592C>T (p.Asn864=)
NM_001291867.2(NHS):c.2753G>A (p.Ser918Asn)
NM_001291867.2(NHS):c.302A>C (p.Glu101Ala)
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup)	rs398124607
NM_001291867.2(NHS):c.3057A>G (p.Ala1019=)	rs751373846
NM_001291867.2(NHS):c.305C>T (p.Ala102Val)
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del)	rs797045741
NM_001291867.2(NHS):c.3157A>G (p.Lys1053Glu)	rs1569320224
NM_001291867.2(NHS):c.3245del (p.Pro1082fs)	rs1556039406
NM_001291867.2(NHS):c.3280C>T (p.Leu1094Phe)
NM_001291867.2(NHS):c.332C>T (p.Ser111Leu)
NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup)	rs587780401
NM_001291867.2(NHS):c.333GGC[8] (p.Ala117_Val118insAlaAla)
NM_001291867.2(NHS):c.3375G>A (p.Ser1125=)
NM_001291867.2(NHS):c.353T>C (p.Val118Ala)
NM_001291867.2(NHS):c.3646C>T (p.His1216Tyr)
NM_001291867.2(NHS):c.3665C>T (p.Thr1222Ile)
NM_001291867.2(NHS):c.3687C>T (p.Cys1229=)
NM_001291867.2(NHS):c.3689A>G (p.Asp1230Gly)
NM_001291867.2(NHS):c.3802G>A (p.Ala1268Thr)
NM_001291867.2(NHS):c.3828G>C (p.Arg1276Ser)
NM_001291867.2(NHS):c.3829G>A (p.Val1277Ile)
NM_001291867.2(NHS):c.3841C>T (p.Arg1281Cys)
NM_001291867.2(NHS):c.388G>A (p.Ala130Thr)
NM_001291867.2(NHS):c.4040G>A (p.Ser1347Asn)
NM_001291867.2(NHS):c.4064G>A (p.Gly1355Asp)
NM_001291867.2(NHS):c.4073G>C (p.Ser1358Thr)
NM_001291867.2(NHS):c.4087A>G (p.Ile1363Val)
NM_001291867.2(NHS):c.4118G>A (p.Cys1373Tyr)
NM_001291867.2(NHS):c.4128G>C (p.Gln1376His)
NM_001291867.2(NHS):c.4194A>G (p.Gln1398=)
NM_001291867.2(NHS):c.423C>G (p.Asp141Glu)
NM_001291867.2(NHS):c.4250T>G (p.Ile1417Ser)	rs1556040052
NM_001291867.2(NHS):c.4350-5C>G
NM_001291867.2(NHS):c.466G>C (p.Asp156His)
NM_001291867.2(NHS):c.519C>T (p.Gly173=)
NM_001291867.2(NHS):c.546C>A (p.Asp182Glu)
NM_001291867.2(NHS):c.611G>A (p.Arg204His)
NM_001291867.2(NHS):c.63C>A (p.Pro21=)
NM_001291867.2(NHS):c.754G>A (p.Ala252Thr)
NM_001291867.2(NHS):c.842A>G (p.His281Arg)
NM_001291867.2(NHS):c.90C>A (p.Gly30=)
NM_001291867.2(NHS):c.917C>T (p.Ser306Phe)
NM_001291867.2(NHS):c.94G>C (p.Ala32Pro)
NM_001291867.2(NHS):c.965C>T (p.Pro322Leu)

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