ClinVar Miner

List of variants reported as benign for Limb-Girdle Muscular Dystrophy, Recessive

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.*134C>T rs3098423 0.97772
NM_000337.6(SGCD):c.*6717G>A rs1827368 0.90216
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_213599.3(ANO5):c.*3178C>G rs6483841 0.72187
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000232.5(SGCB):c.*2097T>G rs170424 0.57555
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_000232.5(SGCB):c.*1624C>T rs225163 0.43578
NM_000232.5(SGCB):c.*1566T>C rs13989 0.43564
NM_000232.5(SGCB):c.*521A>T rs225165 0.43151
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_000337.6(SGCD):c.*1527C>T rs284445 0.26081
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000337.6(SGCD):c.*3772dup rs397841758 0.20069
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_000337.6(SGCD):c.*5863C>T rs11953631 0.15411
NM_000337.6(SGCD):c.*4395A>T rs10041876 0.15385
NM_000337.6(SGCD):c.*781G>C rs3857412 0.14424
NM_000337.6(SGCD):c.*1618T>C rs1389818 0.14033
NM_000337.6(SGCD):c.*4813T>C rs1845479 0.14018
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000337.6(SGCD):c.-94C>G rs13170573
NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1] rs71034576

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