ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1284+2_1284+19del	rs1057516409
NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)

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