ClinVar Miner

List of variants reported as pathogenic for Muscular dystrophy, limb-girdle, autosomal recessive 23 by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	rs758775001	0.00002
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)	rs202247791	0.00001
NM_000426.4(LAMA2):c.396+1G>T	rs770617208	0.00001

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