ClinVar Miner

List of variants in gene NHS reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 35
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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.4832G>C (p.Ser1611Thr) rs140651691 0.00086
NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn) rs142186771 0.00081
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731 0.00074
NM_001291867.2(NHS):c.1965T>G (p.Pro655=) rs151009077 0.00069
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596 0.00053
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610 0.00028
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn) rs148418212 0.00019
NM_001291867.2(NHS):c.739C>T (p.Arg247Cys) rs369785842 0.00016
NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu) rs150689121 0.00009
NM_001291867.2(NHS):c.766C>G (p.Leu256Val) rs200598087 0.00009
NM_001291867.2(NHS):c.3786G>A (p.Thr1262=) rs150235442 0.00008
NM_001291867.2(NHS):c.4082C>T (p.Ser1361Leu) rs766379688 0.00008
NM_001291867.2(NHS):c.2047G>A (p.Val683Met) rs587780403 0.00003
NM_001291867.2(NHS):c.3093G>A (p.Thr1031=) rs1157246576 0.00002
NM_001291867.2(NHS):c.4813C>T (p.Arg1605Trp) rs370208884 0.00002
NM_001291867.2(NHS):c.503A>G (p.Gln168Arg) rs769860109 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.176_177delinsAA (p.Arg59Gln) rs797045739
NM_001291867.2(NHS):c.1943_1945dup (p.Thr648dup) rs797045740
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del) rs797045741
NM_001291867.2(NHS):c.333GGC[3] (p.Ala115_Ala117del) rs587780401
NM_001291867.2(NHS):c.333GGC[5] (p.Ala117del) rs587780401
NM_001291867.2(NHS):c.4167T>C (p.Ser1389=) rs767452227
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) rs398124609

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