ClinVar Miner

List of variants in gene SCN3A studied for neurodevelopmental disorder

Included ClinVar conditions (780):
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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.2031A>T (p.Thr677=) rs1946892 0.51537
NM_006922.4(SCN3A):c.695-46A>G rs9333576 0.22613
NM_006922.4(SCN3A):c.602+9C>T rs7579000 0.22520
NM_006922.4(SCN3A):c.968-20G>T rs11887309 0.22426
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=) rs16850131 0.21998
NM_006922.4(SCN3A):c.1381-34G>A rs58539679 0.21988
NM_006922.4(SCN3A):c.2547A>C (p.Val849=) rs62174900 0.16330
NM_006922.4(SCN3A):c.5584G>T (p.Gly1862Cys) rs41265137 0.01346
NM_006922.4(SCN3A):c.4432-14T>C rs73969177 0.00780
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_006922.4(SCN3A):c.171T>C (p.Ala57=) rs111389453 0.00278
NM_006922.4(SCN3A):c.5407G>A (p.Asp1803Asn) rs3731762 0.00040
NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=) rs144587694 0.00035
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_006922.4(SCN3A):c.2391+3A>G rs369416840 0.00009
NM_006922.4(SCN3A):c.3589A>G (p.Lys1197Glu) rs530839611 0.00008
NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg) rs577933870 0.00006
NM_006922.4(SCN3A):c.5583G>C (p.Leu1861Phe) rs146618194 0.00006
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met) rs200031995 0.00005
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp) rs751294193 0.00004
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) rs551837418 0.00004
NM_006922.4(SCN3A):c.560G>A (p.Arg187His) rs183764694 0.00004
NM_006922.4(SCN3A):c.2329A>T (p.Met777Leu) rs746866750 0.00002
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) rs144957412 0.00002
NM_006922.4(SCN3A):c.559C>T (p.Arg187Cys) rs777999021 0.00002
NM_006922.4(SCN3A):c.1670A>T (p.Gln557Leu) rs1049507805 0.00001
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala) rs868728039 0.00001
NM_006922.4(SCN3A):c.1966T>G (p.Leu656Val) rs764003738 0.00001
NM_006922.4(SCN3A):c.2392-9A>G rs199781617 0.00001
NM_006922.4(SCN3A):c.2552G>A (p.Arg851Gln) rs897312933 0.00001
NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met) rs762536754 0.00001
NM_006922.4(SCN3A):c.4924C>T (p.Arg1642Cys) rs1312429782 0.00001
NM_006922.4(SCN3A):c.4G>A (p.Ala2Thr) rs772128810 0.00001
NM_006922.4(SCN3A):c.5395A>C (p.Lys1799Gln) rs1170839078 0.00001
NM_006922.4(SCN3A):c.-50-2312T>C rs1690638367
NM_006922.4(SCN3A):c.1032-7C>T rs1688994875
NM_006922.4(SCN3A):c.1060A>C (p.Lys354Gln) rs1553535457
NM_006922.4(SCN3A):c.127_129del (p.Asn43del) rs72471101
NM_006922.4(SCN3A):c.1298C>T (p.Ala433Val)
NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala) rs1159568725
NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr) rs2105833109
NM_006922.4(SCN3A):c.1945dup (p.Asp649fs)
NM_006922.4(SCN3A):c.1970T>C (p.Val657Ala) rs922985729
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)
NM_006922.4(SCN3A):c.2182C>T (p.Pro728Ser) rs2105801570
NM_006922.4(SCN3A):c.2285T>C (p.Val762Ala)
NM_006922.4(SCN3A):c.2350A>G (p.Met784Val) rs778744191
NM_006922.4(SCN3A):c.2564T>C (p.Leu855Pro) rs2105776898
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe) rs2105772689
NM_006922.4(SCN3A):c.2727A>T (p.Lys909Asn)
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del) rs1574159505
NM_006922.4(SCN3A):c.3050A>C (p.Tyr1017Ser)
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly) rs1060500006
NM_006922.4(SCN3A):c.3328T>G (p.Ser1110Ala) rs2105761872
NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr) rs1259561654
NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile) rs2105710443
NM_006922.4(SCN3A):c.3838G>A (p.Val1280Ile)
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) rs1057520753
NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser) rs768382383
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg) rs755159935
NM_006922.4(SCN3A):c.4431+1A>G
NM_006922.4(SCN3A):c.4457C>G (p.Thr1486Arg)
NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile) rs2105636234
NM_006922.4(SCN3A):c.4484C>T (p.Ala1495Val)
NM_006922.4(SCN3A):c.4518A>C (p.Lys1506Asn)
NM_006922.4(SCN3A):c.4518del (p.Lys1506fs) rs2105635851
NM_006922.4(SCN3A):c.4544T>G (p.Phe1515Cys)
NM_006922.4(SCN3A):c.4802T>C (p.Ile1601Thr)
NM_006922.4(SCN3A):c.4811T>C (p.Met1604Thr) rs1685095084
NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu) rs1401610497
NM_006922.4(SCN3A):c.4861C>G (p.Arg1621Gly)
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln) rs1199412903
NM_006922.4(SCN3A):c.4937T>C (p.Phe1646Ser) rs2105621618
NM_006922.4(SCN3A):c.4937T>G (p.Phe1646Cys)
NM_006922.4(SCN3A):c.5003T>C (p.Ile1668Thr) rs1685081916
NM_006922.4(SCN3A):c.5006A>G (p.Tyr1669Cys) rs2105621335
NM_006922.4(SCN3A):c.5027A>C (p.Asn1676Thr)
NM_006922.4(SCN3A):c.5276T>A (p.Phe1759Tyr)
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_006922.4(SCN3A):c.5295G>C (p.Met1765Ile)
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006922.4(SCN3A):c.5516T>C (p.Leu1839Pro)
NM_006922.4(SCN3A):c.5612G>A (p.Arg1871Gln) rs2105618139
NM_006922.4(SCN3A):c.5621T>G (p.Met1874Arg) rs1685039783
NM_006922.4(SCN3A):c.5734A>C (p.Arg1912=) rs1553517046
NM_006922.4(SCN3A):c.585_586del (p.Phe195fs) rs2105895111
NM_006922.4(SCN3A):c.5947A>C (p.Lys1983Gln) rs774354894
NM_006922.4(SCN3A):c.603-3_603-2del rs770371377
NM_006922.4(SCN3A):c.626T>C (p.Leu209Pro) rs1553537132
NM_006922.4(SCN3A):c.655A>G (p.Arg219Gly)
NM_006922.4(SCN3A):c.694+1G>T rs2105892972
NM_006922.4(SCN3A):c.694+2T>G
NM_006922.4(SCN3A):c.740T>C (p.Leu247Pro) rs1689488709

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