ClinVar Miner

List of variants in gene NALCN reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.515+7G>A rs41281142 0.01052
NM_052867.4(NALCN):c.2192+5C>T rs41281140 0.00972
NM_052867.4(NALCN):c.2241C>T (p.Pro747=) rs79264337 0.00512
NM_052867.4(NALCN):c.3735A>G (p.Ser1245=) rs111383689 0.00300
NM_052867.4(NALCN):c.3270-4G>A rs199646798 0.00109
NM_052867.4(NALCN):c.4103+4G>C rs201402954 0.00078
NM_052867.4(NALCN):c.1567A>G (p.Ile523Val) rs150580612 0.00060
NM_052867.4(NALCN):c.3843G>A (p.Thr1281=) rs151200877 0.00057
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr) rs77946954 0.00026
NM_052867.4(NALCN):c.942+8G>A rs374004710 0.00006
NM_052867.4(NALCN):c.884G>A (p.Arg295His) rs377716963 0.00002
NM_052867.4(NALCN):c.2080C>T (p.Arg694Cys) rs569850296 0.00001
NM_052867.4(NALCN):c.3577C>T (p.Arg1193Cys) rs1387780751 0.00001
NM_052867.4(NALCN):c.829G>T (p.Ala277Ser) rs759934018 0.00001
NM_052867.4(NALCN):c.1371C>A (p.Leu457=)
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys) rs786203988
NM_052867.4(NALCN):c.1745A>G (p.Tyr582Cys)
NM_052867.4(NALCN):c.1807G>C (p.Glu603Gln) rs2139938616
NM_052867.4(NALCN):c.2118+6A>T
NM_052867.4(NALCN):c.2193-5331C>T
NM_052867.4(NALCN):c.2195C>T (p.Ala732Val)
NM_052867.4(NALCN):c.2831del (p.Phe944fs)
NM_052867.4(NALCN):c.3059T>C (p.Val1020Ala) rs2034773072
NM_052867.4(NALCN):c.3246T>C (p.Pro1082=)
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr) rs2139519168
NM_052867.4(NALCN):c.4057G>A (p.Gly1353Arg)
NM_052867.4(NALCN):c.4122G>C (p.Ser1374=)
NM_052867.4(NALCN):c.4665G>A (p.Ala1555=)
NM_052867.4(NALCN):c.4977C>T (p.Asp1659=) rs78817184
NM_052867.4(NALCN):c.5127G>A (p.Ala1709=) rs111638537
NM_052867.4(NALCN):c.5156G>A (p.Trp1719Ter) rs2031082481
NM_052867.4(NALCN):c.549_560del (p.Phe187_Leu190del) rs2046704182
NM_052867.4(NALCN):c.645-2185T>C
NM_052867.4(NALCN):c.75G>A (p.Ser25=)
NM_052867.4(NALCN):c.943-1G>C rs2043576660
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_052867.4(NALCN):c.968A>G (p.Glu323Gly)

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