ClinVar Miner

List of variants in gene NHS reported as uncertain significance for Inborn genetic diseases

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys) rs773995388 0.00026
NM_001291867.2(NHS):c.1723A>G (p.Lys575Glu) rs199789055 0.00014
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr) rs762685365 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.1175G>A (p.Arg392Gln) rs372969054 0.00007
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg) rs371229391 0.00006
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.1040C>T (p.Thr347Met)
NM_001291867.2(NHS):c.1630G>T (p.Asp544Tyr)
NM_001291867.2(NHS):c.1691C>T (p.Ala564Val)
NM_001291867.2(NHS):c.176G>A (p.Arg59His)
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)
NM_001291867.2(NHS):c.1941A>C (p.Glu647Asp)
NM_001291867.2(NHS):c.2225G>A (p.Arg742His)
NM_001291867.2(NHS):c.2753G>A (p.Ser918Asn)
NM_001291867.2(NHS):c.302A>C (p.Glu101Ala)
NM_001291867.2(NHS):c.305C>T (p.Ala102Val)
NM_001291867.2(NHS):c.3157A>G (p.Lys1053Glu) rs1569320224
NM_001291867.2(NHS):c.3280C>T (p.Leu1094Phe)
NM_001291867.2(NHS):c.332C>T (p.Ser111Leu)
NM_001291867.2(NHS):c.333GGC[8] (p.Ala117_Val118insAlaAla)
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.3689A>G (p.Asp1230Gly)
NM_001291867.2(NHS):c.3802G>A (p.Ala1268Thr)
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.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.754G>A (p.Ala252Thr)
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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