List of variants reported as likely pathogenic for Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000426.4(LAMA2):c.2451-2A>G	rs993196576	0.00003
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)	rs749566145	0.00002
NM_000426.4(LAMA2):c.8244+1G>A	rs749522728	0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)	rs1463264889	0.00001
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)	rs398123368
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)	rs1480934961
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)	rs1554227092

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