ClinVar Miner

List of variants reported as benign for Autosomal recessive limb-girdle muscular dystrophy

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.1537-48T>C rs2241827 0.75536
NM_003494.4(DYSF):c.88+12589T>C rs58981291 0.17695
NM_000023.4(SGCA):c.37+23G>A rs79410682 0.04607
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04117
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03329
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00877
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_000232.5(SGCB):c.*3043A>G rs73246100 0.00437
NM_000231.3(SGCG):c.*185G>A rs115918628 0.00417
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00246
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00056
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029

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