ClinVar Miner

List of variants in gene SCN3A reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_006922.4(SCN3A):c.642G>A (p.Ala214=) rs575814709 0.00048
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) rs368608408 0.00042
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=) rs143360102 0.00036
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=) rs146624492 0.00032
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=) rs370351101 0.00025
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=) rs145492863 0.00024
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg) rs149264761 0.00021
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=) rs746501220 0.00006
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) rs200538599 0.00004
NM_006922.4(SCN3A):c.474-4C>T rs371709966 0.00004
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=) rs376381280 0.00003
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=) rs370141420 0.00003
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=) rs761584493 0.00003
NM_006922.4(SCN3A):c.5411C>T (p.Ala1804Val) rs764672375 0.00003
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=) rs76144052 0.00002
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) rs144957412 0.00002
NM_006922.4(SCN3A):c.4481A>G (p.Asn1494Ser) rs145699902 0.00001
NM_006922.4(SCN3A):c.80A>C (p.Lys27Thr) rs1259701704 0.00001
NM_006922.4(SCN3A):c.1423A>C (p.Ile475Leu) rs886043358
NM_006922.4(SCN3A):c.1760T>C (p.Val587Ala) rs794727101
NM_006922.4(SCN3A):c.3844-19dup rs71028466
NM_006922.4(SCN3A):c.4294-10T>C rs372224235
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) rs370428859

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