ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2D by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000023.4(SGCA):c.289G>C (p.Asp97His) rs774299871 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.748-2A>T rs1412537279 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000023.4(SGCA):c.100C>A (p.Arg34Ser) rs758647756
NM_000023.4(SGCA):c.158-2A>G rs1057516300
NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)
NM_000023.4(SGCA):c.221G>C (p.Arg74Pro) rs779439298
NM_000023.4(SGCA):c.221_313-36del
NM_000023.4(SGCA):c.241C>A (p.Arg81Ser) rs398123098
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.296G>A (p.Gly99Glu)
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
NM_000023.4(SGCA):c.307A>T (p.Ile103Phe)
NM_000023.4(SGCA):c.312+1G>A rs2144494642
NM_000023.4(SGCA):c.312+1G>C rs2144494642
NM_000023.4(SGCA):c.329G>T (p.Arg110Leu)
NM_000023.4(SGCA):c.37+1G>C rs111386656
NM_000023.4(SGCA):c.37+1G>T
NM_000023.4(SGCA):c.472C>T (p.Leu158Phe) rs2144496721
NM_000023.4(SGCA):c.584+1G>A rs2144497138
NM_000023.4(SGCA):c.586G>A (p.Val196Ile) rs752695991
NM_000023.4(SGCA):c.601G>A (p.Gly201Ser) rs2144498121
NM_000023.4(SGCA):c.602G>A (p.Gly201Asp) rs2144498132
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.643T>C (p.Ser215Pro) rs76542495
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.695G>A (p.Cys232Tyr) rs2144498403
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.747G>T (p.Leu249=) rs2144498569
NM_000023.4(SGCA):c.748G>T (p.Val250Leu) rs1473539605
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.88C>T (p.Pro30Ser) rs1327595249
NM_000023.4(SGCA):c.946C>T (p.Arg316Trp)
NM_000023.4(SGCA):c.956+1G>A
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342
NM_000023.4(SGCA):c.957-1G>T rs2144502043

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