ClinVar Miner

List of variants reported as pathogenic for congenital muscular dystrophy due to integrin alpha-7 deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000012.11:g.(?_56091459)_(56092721_?)del
NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs) rs750756707
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter) rs372328960

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