ClinVar Miner

List of variants in gene NALCN reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.4103+4G>C rs201402954 0.00078
NM_052867.4(NALCN):c.1115G>A (p.Arg372His) rs75772824 0.00066
NM_052867.4(NALCN):c.3272C>A (p.Ala1091Glu) rs147053581 0.00062
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr) rs77946954 0.00026
NM_052867.4(NALCN):c.2266G>A (p.Val756Met) rs149203278 0.00011
NM_052867.4(NALCN):c.2767T>A (p.Tyr923Asn) rs148462507 0.00011
NM_052867.4(NALCN):c.107C>A (p.Pro36Gln) rs551879819 0.00008
NM_052867.4(NALCN):c.4850C>T (p.Thr1617Ile) rs911906713 0.00006
NM_052867.4(NALCN):c.1937T>C (p.Ile646Thr) rs141507135 0.00004
NM_052867.4(NALCN):c.4906-3C>A rs1203141133 0.00003
NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter) rs757674263 0.00001
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter) rs376152742 0.00001
NM_052867.4(NALCN):c.2579+5G>A rs2035187622 0.00001
NM_052867.4(NALCN):c.3853G>A (p.Val1285Ile) rs771743242 0.00001
NM_052867.4(NALCN):c.4123G>T (p.Ala1375Ser) rs1011292242 0.00001
NM_052867.4(NALCN):c.5138G>A (p.Gly1713Asp) rs2031085413 0.00001
NM_052867.4(NALCN):c.5164C>T (p.Arg1722Trp) rs1013463370 0.00001
NM_052867.4(NALCN):c.1322G>A (p.Gly441Glu)
NM_052867.4(NALCN):c.1809A>C (p.Glu603Asp)
NM_052867.4(NALCN):c.184G>A (p.Glu62Lys)
NM_052867.4(NALCN):c.2024G>A (p.Cys675Tyr)
NM_052867.4(NALCN):c.2027G>T (p.Cys676Phe)
NM_052867.4(NALCN):c.2122C>T (p.Arg708Cys)
NM_052867.4(NALCN):c.2291G>A (p.Arg764His)
NM_052867.4(NALCN):c.2723C>A (p.Pro908Gln)
NM_052867.4(NALCN):c.2729G>A (p.Arg910Gln)
NM_052867.4(NALCN):c.2749A>G (p.Thr917Ala)
NM_052867.4(NALCN):c.2757+6G>A
NM_052867.4(NALCN):c.3440G>A (p.Gly1147Glu)
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.418G>A (p.Gly140Ser)
NM_052867.4(NALCN):c.4197+1G>A rs869312952
NM_052867.4(NALCN):c.4198G>T (p.Val1400Phe)
NM_052867.4(NALCN):c.4355T>C (p.Leu1452Ser) rs2032560672
NM_052867.4(NALCN):c.4605-1G>C rs1555373511
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_052867.4(NALCN):c.4843G>A (p.Glu1615Lys)
NM_052867.4(NALCN):c.4850C>G (p.Thr1617Ser)
NM_052867.4(NALCN):c.4937C>T (p.Thr1646Met)
NM_052867.4(NALCN):c.4943C>T (p.Ser1648Leu)
NM_052867.4(NALCN):c.4997A>C (p.Lys1666Thr)
NM_052867.4(NALCN):c.5012G>A (p.Arg1671His)
NM_052867.4(NALCN):c.5029A>G (p.Lys1677Glu)
NM_052867.4(NALCN):c.5126C>T (p.Ala1709Val)
NM_052867.4(NALCN):c.679A>G (p.Thr227Ala) rs2045687680
NM_052867.4(NALCN):c.700G>C (p.Glu234Gln)
NM_052867.4(NALCN):c.762C>A (p.Ser254Arg)
NM_052867.4(NALCN):c.817G>A (p.Val273Ile)
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_052867.4(NALCN):c.986G>C (p.Arg329Thr) rs2043574947

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