ClinVar Miner

Variants in gene SCN3A with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
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.1523A>G (p.Gln508Arg) rs143763998 0.00020
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_006922.4(SCN3A):c.1712G>A (p.Arg571His) rs765013479 0.00010
NM_006922.4(SCN3A):c.1813G>A (p.Glu605Lys) rs755167692 0.00006
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val) rs138331141 0.00006
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.4236A>G (p.Gln1412=) rs551837418 0.00004
NM_006922.4(SCN3A):c.474-4C>T rs371709966 0.00004
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu) rs776260027 0.00004
NM_006922.4(SCN3A):c.1505G>A (p.Arg502Gln) rs747726149 0.00003
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.1773T>C (p.Asn591=) rs76144052 0.00002
NM_006922.4(SCN3A):c.2019+8T>C rs1159326316 0.00002
NM_006922.4(SCN3A):c.3084A>G (p.Lys1028=) rs767052591 0.00002
NM_006922.4(SCN3A):c.4117T>C (p.Phe1373Leu) rs977221211 0.00002
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala) rs868728039 0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) rs577018955 0.00001
NM_006922.4(SCN3A):c.3387C>A (p.Ser1129Arg) rs774375940 0.00001
NM_006922.4(SCN3A):c.4121A>T (p.Asp1374Val) rs377507565 0.00001
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=) rs1018125027
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) rs370428859

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