ClinVar Miner

List of variants in gene NALCN studied for Inborn genetic diseases

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Gene type:
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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.103A>G (p.Lys35Glu) rs79047578 0.00184
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.2307T>G (p.His769Gln) rs147070169 0.00016
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 0.00007
NM_052867.4(NALCN):c.2757+6G>A rs370947153 0.00005
NM_052867.4(NALCN):c.4850C>T (p.Thr1617Ile) rs911906713 0.00005
NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser) rs751927717 0.00004
NM_052867.4(NALCN):c.1937T>C (p.Ile646Thr) rs141507135 0.00003
NM_052867.4(NALCN):c.2174C>T (p.Ala725Val) rs202136771 0.00003
NM_052867.4(NALCN):c.4906-3C>A rs1203141133 0.00003
NM_052867.4(NALCN):c.4469T>G (p.Val1490Gly) rs1445745338 0.00002
NM_052867.4(NALCN):c.5011C>T (p.Arg1671Cys) rs143587652 0.00002
NM_052867.4(NALCN):c.641C>A (p.Pro214Gln) rs982821000 0.00002
NM_052867.4(NALCN):c.691C>T (p.Pro231Ser) rs766358582 0.00002
NM_052867.4(NALCN):c.1117G>T (p.Ala373Ser) rs752215175 0.00001
NM_052867.4(NALCN):c.1127G>T (p.Cys376Phe) rs549001898 0.00001
NM_052867.4(NALCN):c.1322G>A (p.Gly441Glu) rs1204995766 0.00001
NM_052867.4(NALCN):c.184G>A (p.Glu62Lys) rs1029379718 0.00001
NM_052867.4(NALCN):c.2122C>T (p.Arg708Cys) rs780641051 0.00001
NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter) rs757674263 0.00001
NM_052867.4(NALCN):c.2221G>A (p.Gly741Arg) rs771990457 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.2680A>G (p.Ile894Val) rs779157733 0.00001
NM_052867.4(NALCN):c.2729G>A (p.Arg910Gln) rs932887695 0.00001
NM_052867.4(NALCN):c.3715G>A (p.Val1239Ile) rs770456318 0.00001
NM_052867.4(NALCN):c.3853G>A (p.Val1285Ile) rs771743242 0.00001
NM_052867.4(NALCN):c.3896C>T (p.Thr1299Ile) rs768279312 0.00001
NM_052867.4(NALCN):c.4123G>T (p.Ala1375Ser) rs1011292242 0.00001
NM_052867.4(NALCN):c.4197+1G>A rs869312952 0.00001
NM_052867.4(NALCN):c.4843G>A (p.Glu1615Lys) rs756729162 0.00001
NM_052867.4(NALCN):c.4912A>G (p.Ser1638Gly) rs369613219 0.00001
NM_052867.4(NALCN):c.4943C>T (p.Ser1648Leu) rs779956241 0.00001
NM_052867.4(NALCN):c.4997A>C (p.Lys1666Thr) rs1289587436 0.00001
NM_052867.4(NALCN):c.5012G>A (p.Arg1671His) rs747694503 0.00001
NM_052867.4(NALCN):c.5125G>A (p.Ala1709Thr) rs755292491 0.00001
NM_052867.4(NALCN):c.5126C>T (p.Ala1709Val) rs373221131 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.817G>A (p.Val273Ile) rs199687023 0.00001
NM_052867.4(NALCN):c.829G>T (p.Ala277Ser) rs759934018 0.00001
NM_052867.4(NALCN):c.1419A>T (p.Gln473His)
NM_052867.4(NALCN):c.1717C>T (p.Pro573Ser) rs2039700087
NM_052867.4(NALCN):c.1809A>C (p.Glu603Asp) rs2502667664
NM_052867.4(NALCN):c.1927A>G (p.Met643Val)
NM_052867.4(NALCN):c.198_201del (p.Leu67fs)
NM_052867.4(NALCN):c.2024G>A (p.Cys675Tyr) rs753918617
NM_052867.4(NALCN):c.2027G>T (p.Cys676Phe) rs1345503450
NM_052867.4(NALCN):c.2291G>A (p.Arg764His) rs760331955
NM_052867.4(NALCN):c.2521G>A (p.Gly841Arg)
NM_052867.4(NALCN):c.2615A>G (p.Asn872Ser)
NM_052867.4(NALCN):c.2723C>A (p.Pro908Gln) rs370644253
NM_052867.4(NALCN):c.2749A>G (p.Thr917Ala) rs2502155052
NM_052867.4(NALCN):c.2783T>G (p.Phe928Cys)
NM_052867.4(NALCN):c.2873A>G (p.Asp958Gly)
NM_052867.4(NALCN):c.2932G>C (p.Ala978Pro)
NM_052867.4(NALCN):c.3162+5G>C rs750504145
NM_052867.4(NALCN):c.317G>A (p.Arg106His) rs1311494196
NM_052867.4(NALCN):c.3227G>A (p.Arg1076Lys) rs1437183994
NM_052867.4(NALCN):c.3313A>G (p.Met1105Val)
NM_052867.4(NALCN):c.3440G>A (p.Gly1147Glu) rs1025438606
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.3823C>T (p.Arg1275Ter)
NM_052867.4(NALCN):c.3829G>A (p.Asp1277Asn)
NM_052867.4(NALCN):c.3973C>G (p.Leu1325Val)
NM_052867.4(NALCN):c.4123G>A (p.Ala1375Thr) rs1011292242
NM_052867.4(NALCN):c.418G>A (p.Gly140Ser) rs1337215977
NM_052867.4(NALCN):c.4198G>T (p.Val1400Phe) rs771656968
NM_052867.4(NALCN):c.4258T>A (p.Tyr1420Asn) rs2032624496
NM_052867.4(NALCN):c.4355T>C (p.Leu1452Ser) rs2032560672
NM_052867.4(NALCN):c.4465C>T (p.Arg1489Cys) rs1290053903
NM_052867.4(NALCN):c.4581C>G (p.Asp1527Glu)
NM_052867.4(NALCN):c.4605-1G>C rs1555373511
NM_052867.4(NALCN):c.4693dup (p.Glu1565fs)
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_052867.4(NALCN):c.4847C>A (p.Thr1616Asn)
NM_052867.4(NALCN):c.4850C>G (p.Thr1617Ser) rs911906713
NM_052867.4(NALCN):c.4863G>C (p.Glu1621Asp) rs758160958
NM_052867.4(NALCN):c.4897C>G (p.Gln1633Glu)
NM_052867.4(NALCN):c.4937C>T (p.Thr1646Met) rs771714484
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu) rs78817184
NM_052867.4(NALCN):c.5029A>G (p.Lys1677Glu) rs2501712459
NM_052867.4(NALCN):c.5066G>A (p.Arg1689Gln) rs189387840
NM_052867.4(NALCN):c.5184C>G (p.Ser1728Arg) rs762554597
NM_052867.4(NALCN):c.676G>A (p.Asp226Asn)
NM_052867.4(NALCN):c.679A>G (p.Thr227Ala) rs2045687680
NM_052867.4(NALCN):c.700G>C (p.Glu234Gln) rs1255554276
NM_052867.4(NALCN):c.762C>A (p.Ser254Arg) rs2503579791
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_052867.4(NALCN):c.986G>C (p.Arg329Thr) rs2043574947

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