ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 1 by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser) rs121912444
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.205T>C (p.Ser69Pro) rs2049594204
NM_000454.5(SOD1):c.214C>T (p.His72Tyr) rs2049594311
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.5(SOD1):c.262G>A (p.Val88Met) rs1568810641
NM_000454.5(SOD1):c.352C>G (p.Leu118Val) rs199474723
NM_000454.5(SOD1):c.376G>A (p.Asp126Asn) rs1568811372
NM_000454.5(SOD1):c.396T>G (p.Asn132Lys) rs1027128618
NM_000454.5(SOD1):c.400G>A (p.Glu134Lys) rs2049618449
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe) rs1482760341
NM_000454.5(SOD1):c.43G>A (p.Val15Met) rs1568807400
NM_000454.5(SOD1):c.446T>G (p.Val149Gly) rs1476760624
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu) rs1169198442
NM_000454.5(SOD1):c.95T>C (p.Val32Ala) rs1428716759

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