ClinVar Miner

List of variants in gene combination CRPPA, LOC129998005 reported as benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299

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