ClinVar Miner

List of variants in gene SCN10A reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=) rs6599242 0.93283
NM_006514.4(SCN10A):c.1868-9A>G rs6599250 0.69912
NM_006514.4(SCN10A):c.884-13T>C rs7641844 0.30982
NM_006514.4(SCN10A):c.4323A>G (p.Lys1441=) rs6790627 0.20722
NM_006514.4(SCN10A):c.1476C>T (p.Leu492=) rs7617919 0.20158
NM_006514.4(SCN10A):c.1284G>A (p.Glu428=) rs62244070 0.20052
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro) rs7630989 0.08988
NM_006514.4(SCN10A):c.5217C>T (p.Asp1739=) rs116353929 0.02232
NM_006514.4(SCN10A):c.4710G>A (p.Thr1570=) rs78425180 0.01966
NM_006514.4(SCN10A):c.4090-19C>T rs77494117 0.01447
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met) rs74717885 0.01345
NM_006514.4(SCN10A):c.5089G>A (p.Val1697Ile) rs77804526 0.00850
NM_006514.4(SCN10A):c.45C>T (p.Arg15=) rs34314583 0.00684
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=) rs151182542 0.00431
NM_006514.4(SCN10A):c.4416C>T (p.Ile1472=) rs144944369 0.00267
NM_006514.4(SCN10A):c.950+17T>C rs188914048 0.00231
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys) rs151153639 0.00217
NM_006514.4(SCN10A):c.2475A>C (p.Glu825Asp) rs146028829 0.00123
NM_006514.4(SCN10A):c.5295G>A (p.Ser1765=) rs145313578 0.00097
NM_006514.4(SCN10A):c.648A>C (p.Thr216=) rs150977149 0.00060
NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile) rs142276689 0.00055
NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys) rs146151670 0.00054
NM_006514.4(SCN10A):c.5358C>T (p.Ile1786=) rs188413410 0.00053
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His) rs139861061 0.00041
NM_006514.4(SCN10A):c.1430C>T (p.Pro477Leu) rs142235256 0.00039
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln) rs201955990 0.00033
NM_006514.4(SCN10A):c.2106+8C>T rs368212766 0.00027
NM_006514.4(SCN10A):c.969T>C (p.Tyr323=) rs143668889 0.00023
NM_006514.4(SCN10A):c.3753C>A (p.Thr1251=) rs144350950 0.00021
NM_006514.4(SCN10A):c.390-9G>A rs370917734 0.00009
NM_006514.4(SCN10A):c.87T>C (p.Ala29=) rs148392780 0.00008
NM_006514.4(SCN10A):c.4956G>A (p.Leu1652=) rs148256707 0.00007
NM_006514.4(SCN10A):c.4515G>A (p.Thr1505=) rs191624001 0.00006
NM_006514.4(SCN10A):c.4660C>T (p.Leu1554=) rs745999522 0.00006
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter) rs149504103 0.00006
NM_006514.4(SCN10A):c.1093-7C>A rs374658847 0.00005
NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter) rs199503439 0.00004
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs) rs747321219 0.00003
NM_006514.4(SCN10A):c.4680T>G (p.Leu1560=) rs529845623 0.00001
NM_006514.4(SCN10A):c.1667A>T (p.Gln556Leu) rs1423285355
NM_006514.4(SCN10A):c.1857C>T (p.Ser619=) rs374060366
NM_006514.4(SCN10A):c.5605C>T (p.Arg1869Cys) rs141648641

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