ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy, congenital, due to integrin alpha-7 deficiency

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Total variants: 6
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HGVS dbSNP
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
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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