ClinVar Miner

List of variants studied for Megaconial type congenital muscular dystrophy by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter) rs373091820 0.00005
NM_005198.5(CHKB):c.1031+3G>C rs751176079 0.00001
NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro) rs2070626510

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