ClinVar Miner

List of variants in gene IGHMBP2 studied for Hammertoe; Difficulty walking; Inability to walk; Progressive muscle weakness; Lower limb muscle weakness

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764 0.00001
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943

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