ClinVar Miner

List of variants in gene NHS studied for Inborn genetic diseases

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Gene type:
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Total variants: 156
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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 0.06159
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.02904
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561 0.02754
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712 0.02748
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) rs149244552 0.00386
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) rs145977627 0.00180
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.1965T>G (p.Pro655=) rs151009077 0.00069
NM_001291867.2(NHS):c.204A>G (p.Pro68=) rs775588477 0.00069
NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln) rs140904281 0.00067
NM_001291867.2(NHS):c.1089T>C (p.Ile363=) rs148565653 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 0.00051
NM_001291867.2(NHS):c.1806G>A (p.Thr602=) rs148872135 0.00048
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn) rs145200841 0.00048
NM_001291867.2(NHS):c.1596G>A (p.Glu532=) rs146437542 0.00044
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met) rs141013518 0.00033
NM_001291867.2(NHS):c.100C>A (p.Pro34Thr) rs954088519 0.00030
NM_001291867.2(NHS):c.3057A>G (p.Ala1019=) rs751373846 0.00029
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.2932A>G (p.Ile978Val) rs377452042 0.00019
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn) rs148418212 0.00019
NM_001291867.2(NHS):c.3959T>C (p.Val1320Ala) rs368703052 0.00018
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 0.00015
NM_001291867.2(NHS):c.842A>G (p.His281Arg) rs752591752 0.00015
NM_001291867.2(NHS):c.1919C>T (p.Thr640Met) rs372391693 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.176G>A (p.Arg59His) rs1044538909 0.00011
NM_001291867.2(NHS):c.1760T>C (p.Met587Thr) rs187739639 0.00010
NM_001291867.2(NHS):c.3687C>T (p.Cys1229=) rs111534978 0.00010
NM_001291867.2(NHS):c.965C>T (p.Pro322Leu) rs200313691 0.00010
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.4128G>C (p.Gln1376His) rs189404594 0.00009
NM_001291867.2(NHS):c.766C>G (p.Leu256Val) rs200598087 0.00009
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.1466A>G (p.Lys489Arg) rs149877928 0.00006
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met) rs745597127 0.00006
NM_001291867.2(NHS):c.2204G>A (p.Arg735His) rs193921046 0.00006
NM_001291867.2(NHS):c.2753G>A (p.Ser918Asn) rs148795520 0.00006
NM_001291867.2(NHS):c.2909C>T (p.Thr970Met) rs373464879 0.00006
NM_001291867.2(NHS):c.302A>C (p.Glu101Ala) rs886428017 0.00006
NM_001291867.2(NHS):c.618G>A (p.Pro206=) rs200952266 0.00006
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) rs727504039 0.00005
NM_001291867.2(NHS):c.2225G>A (p.Arg742His) rs369653594 0.00005
NM_001291867.2(NHS):c.2791G>T (p.Asp931Tyr) rs192848792 0.00005
NM_001291867.2(NHS):c.4871C>T (p.Thr1624Met) rs367919114 0.00005
NM_001291867.2(NHS):c.646C>G (p.Pro216Ala) rs150379955 0.00005
NM_001291867.2(NHS):c.966G>A (p.Pro322=) rs745327335 0.00005
NM_001291867.2(NHS):c.2342C>T (p.Thr781Met) rs147066436 0.00004
NM_001291867.2(NHS):c.3802G>A (p.Ala1268Thr) rs757778031 0.00004
NM_001291867.2(NHS):c.3842G>A (p.Arg1281His) rs138895219 0.00004
NM_001291867.2(NHS):c.1469G>T (p.Gly490Val) rs775816596 0.00003
NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn) rs761002636 0.00003
NM_001291867.2(NHS):c.3841C>T (p.Arg1281Cys) rs770353541 0.00003
NM_001291867.2(NHS):c.4076A>G (p.Tyr1359Cys) rs375264823 0.00003
NM_001291867.2(NHS):c.4087A>G (p.Ile1363Val) rs150554808 0.00003
NM_001291867.2(NHS):c.1630G>T (p.Asp544Tyr) rs1260720066 0.00002
NM_001291867.2(NHS):c.2096C>T (p.Ala699Val) rs751367696 0.00002
NM_001291867.2(NHS):c.2592C>T (p.Asn864=) rs777419454 0.00002
NM_001291867.2(NHS):c.2732A>G (p.Glu911Gly) rs189687959 0.00002
NM_001291867.2(NHS):c.3314G>A (p.Arg1105His) rs749270448 0.00002
NM_001291867.2(NHS):c.353T>C (p.Val118Ala) rs2064345537 0.00002
NM_001291867.2(NHS):c.388G>A (p.Ala130Thr) rs763390377 0.00002
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His) rs141525588 0.00002
NM_001291867.2(NHS):c.4118G>A (p.Cys1373Tyr) rs759386352 0.00002
NM_001291867.2(NHS):c.4646C>A (p.Pro1549His) rs1064797359 0.00002
NM_001291867.2(NHS):c.484C>T (p.Arg162Cys) rs745648326 0.00002
NM_001291867.2(NHS):c.1040C>T (p.Thr347Met) rs200668785 0.00001
NM_001291867.2(NHS):c.1415T>C (p.Ile472Thr) rs751213969 0.00001
NM_001291867.2(NHS):c.1486C>A (p.Pro496Thr) rs776544929 0.00001
NM_001291867.2(NHS):c.1648A>G (p.Ser550Gly) rs2066437967 0.00001
NM_001291867.2(NHS):c.1691C>T (p.Ala564Val) rs766918231 0.00001
NM_001291867.2(NHS):c.189A>G (p.Ala63=) rs1205606908 0.00001
NM_001291867.2(NHS):c.2351A>G (p.Tyr784Cys) rs781676239 0.00001
NM_001291867.2(NHS):c.256G>A (p.Gly86Arg) rs1167916295 0.00001
NM_001291867.2(NHS):c.281A>T (p.Glu94Val) rs1433853793 0.00001
NM_001291867.2(NHS):c.2821G>A (p.Glu941Lys) rs771048907 0.00001
NM_001291867.2(NHS):c.3119T>C (p.Phe1040Ser) rs2066452002 0.00001
NM_001291867.2(NHS):c.3262C>A (p.His1088Asn) rs924426347 0.00001
NM_001291867.2(NHS):c.3280C>T (p.Leu1094Phe) rs754407699 0.00001
NM_001291867.2(NHS):c.332C>T (p.Ser111Leu) rs1215813903 0.00001
NM_001291867.2(NHS):c.3375G>A (p.Ser1125=) rs770275833 0.00001
NM_001291867.2(NHS):c.3385C>G (p.Pro1129Ala) rs1216332385 0.00001
NM_001291867.2(NHS):c.3496G>A (p.Glu1166Lys) rs760274578 0.00001
NM_001291867.2(NHS):c.350C>T (p.Ala117Val) rs764411401 0.00001
NM_001291867.2(NHS):c.3646C>T (p.His1216Tyr) rs200445700 0.00001
NM_001291867.2(NHS):c.3850G>C (p.Asp1284His) rs2066461207 0.00001
NM_001291867.2(NHS):c.4040G>A (p.Ser1347Asn) rs2519942232 0.00001
NM_001291867.2(NHS):c.4121C>G (p.Ser1374Cys) rs1056939670 0.00001
NM_001291867.2(NHS):c.4194A>G (p.Gln1398=) rs41311817 0.00001
NM_001291867.2(NHS):c.423C>G (p.Asp141Glu) rs1007584631 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.601G>A (p.Val201Met) rs2066172269 0.00001
NM_001291867.2(NHS):c.692G>A (p.Arg231Gln) rs757440505 0.00001
NM_001291867.2(NHS):c.90C>A (p.Gly30=) rs1159833129 0.00001
NM_001291867.2(NHS):c.94G>C (p.Ala32Pro) rs1465452744 0.00001
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter) rs1556038028
NM_001291867.2(NHS):c.1567G>A (p.Ala523Thr)
NM_001291867.2(NHS):c.1769A>T (p.Asp590Val)
NM_001291867.2(NHS):c.1941A>C (p.Glu647Asp) rs751357851
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.2409C>T (p.His803=) rs2519937071
NM_001291867.2(NHS):c.2547G>C (p.Pro849=) rs781782408
NM_001291867.2(NHS):c.2614G>A (p.Glu872Lys) rs2519937758
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.305C>T (p.Ala102Val) rs2519619963
NM_001291867.2(NHS):c.3106T>G (p.Phe1036Val)
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.333GGC[7] (p.Ala117dup) rs587780401
NM_001291867.2(NHS):c.333GGC[8] (p.Ala117_Val118insAlaAla) rs587780401
NM_001291867.2(NHS):c.3372G>C (p.Arg1124Ser)
NM_001291867.2(NHS):c.3388T>C (p.Ser1130Pro)
NM_001291867.2(NHS):c.3454G>C (p.Val1152Leu)
NM_001291867.2(NHS):c.3665C>T (p.Thr1222Ile) rs2519941026
NM_001291867.2(NHS):c.3683G>T (p.Arg1228Leu)
NM_001291867.2(NHS):c.3689A>G (p.Asp1230Gly) rs2519941139
NM_001291867.2(NHS):c.3690T>A (p.Asp1230Glu) rs1311205039
NM_001291867.2(NHS):c.3728A>T (p.Asp1243Val)
NM_001291867.2(NHS):c.3828G>C (p.Arg1276Ser) rs746176955
NM_001291867.2(NHS):c.3829G>A (p.Val1277Ile) rs2519941641
NM_001291867.2(NHS):c.394C>G (p.Leu132Val)
NM_001291867.2(NHS):c.4064G>A (p.Gly1355Asp) rs2519942359
NM_001291867.2(NHS):c.4073G>C (p.Ser1358Thr) rs773157182
NM_001291867.2(NHS):c.4147A>G (p.Ile1383Val)
NM_001291867.2(NHS):c.4250T>G (p.Ile1417Ser) rs1556040052
NM_001291867.2(NHS):c.4350-5C>G rs2519948752
NM_001291867.2(NHS):c.4358G>A (p.Arg1453Lys)
NM_001291867.2(NHS):c.466G>C (p.Asp156His) rs2519620437
NM_001291867.2(NHS):c.4691A>G (p.His1564Arg)
NM_001291867.2(NHS):c.4769C>T (p.Ser1590Leu) rs2519950228
NM_001291867.2(NHS):c.519C>T (p.Gly173=) rs2064346850
NM_001291867.2(NHS):c.546C>A (p.Asp182Glu) rs759834255
NM_001291867.2(NHS):c.563T>C (p.Val188Ala)
NM_001291867.2(NHS):c.608A>G (p.Tyr203Cys) rs2519878045
NM_001291867.2(NHS):c.611G>A (p.Arg204His) rs140369750
NM_001291867.2(NHS):c.63C>A (p.Pro21=) rs1435156319
NM_001291867.2(NHS):c.754G>A (p.Ala252Thr) rs1411256335
NM_001291867.2(NHS):c.917C>T (p.Ser306Phe) rs2519926961
NM_001291867.2(NHS):c.930G>T (p.Glu310Asp)

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