ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2E by Mendelics

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
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_000232.5(SGCB):c.753+5G>A rs936193061

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