ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2K by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met) rs397515400 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp) rs397514501

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