ClinVar Miner

List of variants studied for Muscular dystrophy, limb-girdle, autosomal recessive 23 by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039

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