ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2B by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser) rs538170367 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala) rs550721009 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.1033+2T>C rs886042617
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.1267_1276+4dup rs1573744795
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del)
NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro)
NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala)
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp)
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_001130987.2(DYSF):c.952-3C>G
NM_001130987.2(DYSF):c.982del (p.Ala328fs)

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