ClinVar Miner

List of variants in gene ITGA7 reported as pathogenic for congenital muscular dystrophy due to integrin alpha-7 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs) rs750756707
NM_002206.3(ITGA7):c.1205del (p.Gly402fs) rs1565629479
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter) rs372328960
NM_002206.3(ITGA7):c.1506-2A>G rs1565627745

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