ClinVar Miner

List of variants in gene combination LOC114803470, SCN8A reported as uncertain significance by Invitae

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.8C>T (p.Ala3Val) rs758891499 0.00002
NM_001330260.2(SCN8A):c.11G>A (p.Arg4Gln) rs751889285 0.00001
NM_001330260.2(SCN8A):c.235G>A (p.Val79Ile) rs775593096 0.00001
NM_001330260.2(SCN8A):c.269C>T (p.Thr90Met) rs763078635 0.00001
NM_001330260.2(SCN8A):c.70A>G (p.Asn24Asp) rs1170755479 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_001330260.2(SCN8A):c.80G>A (p.Arg27Lys) rs1303731165 0.00001
NM_001330260.2(SCN8A):c.83G>A (p.Arg28His) rs531796685 0.00001
NM_001330260.2(SCN8A):c.100C>T (p.Leu34Phe) rs1940952445
NM_001330260.2(SCN8A):c.10C>T (p.Arg4Trp) rs1940949996
NM_001330260.2(SCN8A):c.117G>C (p.Lys39Asn) rs1940953152
NM_001330260.2(SCN8A):c.119C>T (p.Ala40Val) rs2138671122
NM_001330260.2(SCN8A):c.142G>A (p.Asp48Asn) rs757582223
NM_001330260.2(SCN8A):c.157C>T (p.Pro53Ser) rs1940954610
NM_001330260.2(SCN8A):c.158C>G (p.Pro53Arg) rs1057524711
NM_001330260.2(SCN8A):c.191G>A (p.Ser64Asn)
NM_001330260.2(SCN8A):c.202A>G (p.Ile68Val) rs797045945
NM_001330260.2(SCN8A):c.213C>A (p.Asp71Glu) rs888638528
NM_001330260.2(SCN8A):c.217C>T (p.Pro73Ser)
NM_001330260.2(SCN8A):c.218C>T (p.Pro73Leu) rs1592363476
NM_001330260.2(SCN8A):c.222A>G (p.Gln74=) rs2138671415
NM_001330260.2(SCN8A):c.269C>G (p.Thr90Arg)
NM_001330260.2(SCN8A):c.272A>T (p.Gln91Leu)
NM_001330260.2(SCN8A):c.274A>C (p.Lys92Gln)
NM_001330260.2(SCN8A):c.276A>G (p.Lys92=) rs940189587
NM_001330260.2(SCN8A):c.36T>G (p.Asp12Glu) rs1185519570
NM_001330260.2(SCN8A):c.47C>T (p.Pro16Leu) rs1940950901
NM_001330260.2(SCN8A):c.4G>A (p.Ala2Thr) rs2138670848
NM_001330260.2(SCN8A):c.50_55del (p.Phe17_Pro19delinsSer) rs2138670960
NM_001330260.2(SCN8A):c.51C>G (p.Phe17Leu) rs1592363287
NM_001330260.2(SCN8A):c.56C>G (p.Pro19Arg) rs1940951099
NM_001330260.2(SCN8A):c.60G>C (p.Glu20Asp) rs1940951373
NM_001330260.2(SCN8A):c.85A>C (p.Ile29Leu)
NM_001330260.2(SCN8A):c.88G>A (p.Ala30Thr) rs2138671059

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