ClinVar Miner

List of variants in gene DYSF reported as likely benign for Limb-girdle muscular dystrophy, type 2B

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Total variants: 15
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HGVS dbSNP
NM_001130987.1(DYSF):c.4478_4481dup (p.Ser1495Valfs) rs1553389065
NM_001130987.1(DYSF):c.4494dup (p.Thr1499Hisfs) rs1553389118
NM_001130987.2(DYSF):c.1149+7A>T rs771741504
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=) rs398123775
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778
NM_001130987.2(DYSF):c.3228+8_3228+33del rs1553556251
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=) rs772521748
NM_003494.3(DYSF):c.88+12805_88+12807delAAG rs1553501109
NM_003494.4(DYSF):c.75C>T (p.Ser25=) rs375772222

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