ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 76
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HGVS dbSNP
NM_000335.4(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673
NM_000335.4(SCN5A):c.1050C>G (p.His350Gln) rs587781160
NM_000335.4(SCN5A):c.1237G>T (p.Ala413Ser) rs199473110
NM_000335.4(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113
NM_000335.4(SCN5A):c.142G>A (p.Glu48Lys) rs199473048
NM_000335.4(SCN5A):c.152C>T (p.Ala51Val) rs727505131
NM_000335.4(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491
NM_000335.4(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.4(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128
NM_000335.4(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112
NM_000335.4(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_000335.4(SCN5A):c.1891-8G>A rs12720064
NM_000335.4(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_000335.4(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.4(SCN5A):c.2066G>A (p.Arg689His) rs199473145
NM_000335.4(SCN5A):c.2240A>C (p.Glu747Ala) rs747324991
NM_000335.4(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157
NM_000335.4(SCN5A):c.2365G>A (p.Val789Ile) rs199473159
NM_000335.4(SCN5A):c.2437-5C>A rs72549411
NM_000335.4(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.4(SCN5A):c.2542A>T (p.Ile848Phe) rs199473166
NM_000335.4(SCN5A):c.2647G>A (p.Asp883Asn) rs727505351
NM_000335.4(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_000335.4(SCN5A):c.280A>G (p.Ile94Val) rs202114798
NM_000335.4(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.4(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595
NM_000335.4(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407
NM_000335.4(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599
NM_000335.4(SCN5A):c.3748G>A (p.Val1250Met) rs199473600
NM_000335.4(SCN5A):c.3844C>A (p.Leu1282Met) rs199473216
NM_000335.4(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939
NM_000335.4(SCN5A):c.4296+6T>A rs794728934
NM_000335.4(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250
NM_000335.4(SCN5A):c.4348G>C (p.Val1450Leu) rs876657996
NM_000335.4(SCN5A):c.4464G>T (p.Glu1488Asp) rs199473616
NM_000335.4(SCN5A):c.44G>C (p.Arg15Thr) rs373410109
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691
NM_000335.4(SCN5A):c.4745G>A (p.Arg1582His) rs199473621
NM_000335.4(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278
NM_000335.4(SCN5A):c.5006T>C (p.Ile1669Thr) rs397517955
NM_000335.4(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294
NM_000335.4(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900
NM_000335.4(SCN5A):c.5165C>A (p.Thr1722Asn) rs199473300
NM_000335.4(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5371G>A (p.Asp1791Asn) rs727504495
NM_000335.4(SCN5A):c.53G>A (p.Arg18Gln) rs41311087
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
NM_000335.4(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320
NM_000335.4(SCN5A):c.5537G>A (p.Arg1846His) rs369058100
NM_000335.4(SCN5A):c.5606C>A (p.Ala1869Asp) rs727504759
NM_000335.4(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995
NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) rs370694515
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.5783G>A (p.Arg1928His) rs727504822
NM_000335.4(SCN5A):c.5857G>A (p.Glu1953Lys) rs397517956
NM_000335.4(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638
NM_000335.4(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333
NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335
NM_000335.4(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336
NM_000335.4(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427
NM_000335.4(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_000335.4(SCN5A):c.677C>T (p.Ala226Val) rs199473561
NM_000335.4(SCN5A):c.703+6A>G rs781104838
NM_000335.4(SCN5A):c.820G>A (p.Gly274Ser) rs794728852
NM_000335.4(SCN5A):c.880G>A (p.Val294Met) rs199473086
NM_000335.4(SCN5A):c.892G>A (p.Gly298Ser) rs137854608
NM_000335.4(SCN5A):c.944T>C (p.Leu315Pro) rs199473564
NM_000335.4(SCN5A):c.998+5G>A rs187531872
NM_001099404.1(SCN5A):c.615T>A (p.Tyr205Ter) rs765669597
NM_198056.2(SCN5A):c.3229-10G>A

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