ClinVar Miner

List of variants studied for Muscular dystrophy, limb-girdle, autosomal recessive 23 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)	rs1334243603	0.00001
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs)	rs1776950897

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