ClinVar Miner

List of variants in gene NALCN reported as pathogenic by Yale Center for Mendelian Genomics, Yale University

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter) rs766421214 0.00001
NM_052867.4(NALCN):c.2435dup (p.Glu813fs) rs1594218864
NM_052867.4(NALCN):c.2629del (p.Gln877fs) rs1594212468
NM_052867.4(NALCN):c.2758del (p.Ile920fs) rs1594211334
NM_052867.4(NALCN):c.2889+3_2889+6del rs1594211051
NM_052867.4(NALCN):c.3056dup (p.Leu1019fs) rs772394714
NM_052867.4(NALCN):c.321G>A (p.Trp107Ter) rs1594761911
NM_052867.4(NALCN):c.3556C>T (p.Gln1186Ter) rs1594168638
NM_052867.4(NALCN):c.4103+2T>C rs1594146891
NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter) rs1031314447
NM_052867.4(NALCN):c.4281C>A (p.Phe1427Leu) rs1594134160
NM_052867.4(NALCN):c.4333A>T (p.Ile1445Leu) rs1459166839
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer) rs1594759803

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