ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2O by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)	rs746638187	0.00005
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His)	rs886043030

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