ClinVar Miner

List of variants in gene ITGA7 reported as likely 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: 5
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HGVS dbSNP
NM_002206.3(ITGA7):c.1567+1G>A rs1217190017
NM_002206.3(ITGA7):c.2182del (p.Ala728fs) rs1565622052
NM_002206.3(ITGA7):c.2357+1G>A rs200402328
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002206.3(ITGA7):c.671-1G>A

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