ClinVar Miner

List of variants studied for Muscular dystrophy, limb-girdle, autosomal recessive 23 by MGZ Medical Genetics Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.3626del (p.Gly1209fs)
NM_000426.4(LAMA2):c.639+1del
NM_000426.4(LAMA2):c.8479T>A (p.Tyr2827Asn)

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