ClinVar Miner

List of variants in gene SCN3A reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.5583G>C (p.Leu1861Phe) rs146618194 0.00006
NM_006922.4(SCN3A):c.2552G>A (p.Arg851Gln) rs897312933 0.00001
NM_006922.4(SCN3A):c.1032-7C>T rs1688994875
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.3092T>A (p.Phe1031Tyr) rs1687091780
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) rs1057520753
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg) rs755159935
NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile) rs2105636234
NM_006922.4(SCN3A):c.4518del (p.Lys1506fs) rs2105635851
NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu) rs1401610497
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.5006A>G (p.Tyr1669Cys) rs2105621335
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274

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