ClinVar Miner

List of variants reported as pathogenic for limb-girdle muscular dystrophy by Mendelics

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806 0.00009
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000232.5(SGCB):c.243+2T>C rs1553940661
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter) rs747266069
NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile) rs869320701

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