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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)	rs141365537	0.00003
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)	rs201217202	0.00002
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter)	rs1055839662	0.00001
NM_002206.3(ITGA7):c.1071delinsAT (p.Tyr358fs)	rs2136033955
NM_002206.3(ITGA7):c.1088dup (p.His364fs)	rs587780362
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs)	rs1474512248
NM_002206.3(ITGA7):c.1474C>T (p.Gln492Ter)	rs2136025217
NM_002206.3(ITGA7):c.1567+1G>A	rs1217190017
NM_002206.3(ITGA7):c.171_181del (p.Leu58fs)	rs2136102011
NM_002206.3(ITGA7):c.1825C>T (p.Gln609Ter)	rs148136365
NM_002206.3(ITGA7):c.1887+2T>C
NM_002206.3(ITGA7):c.206+2T>A
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter)	rs2136073462
NM_002206.3(ITGA7):c.2959-2A>G
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter)	rs754699820
NM_002206.3(ITGA7):c.334+1G>T	rs2136072590
NM_002206.3(ITGA7):c.670+1G>A	rs1873861004
NM_002206.3(ITGA7):c.671-1G>A	rs777049999
NM_002206.3(ITGA7):c.790+1G>A	rs2136045991

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