List of variants in gene LAMA2 studied for Congenital muscular dystrophy due to partial LAMA2 deficiency

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP
NM_000426.3(LAMA2):c.1084A>T (p.Arg362Ter)	rs191912891
NM_000426.3(LAMA2):c.1467+1G>A	rs1554234161
NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr)	rs121913574
NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg)	rs121913573
NM_000426.3(LAMA2):c.3924+2T>C	rs1554269966
NM_000426.3(LAMA2):c.463G>T (p.Glu155Ter)	rs756045943
NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter)	rs121913575
NM_000426.3(LAMA2):c.5290dup (p.Glu1764fs)	rs1415944134
NM_000426.3(LAMA2):c.5443G>C (p.Glu1815Gln)	rs1554287445
NM_000426.3(LAMA2):c.6260C>A (p.Ser2087Tyr)	rs1299914386
NM_000426.3(LAMA2):c.6520del (p.Asn2173_Val2174insTer)	rs776548207
NM_000426.3(LAMA2):c.6820del (p.Asp2274fs)	rs1562581261
NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter)	rs121913576
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter)	rs727502851
NM_000426.3(LAMA2):c.8245-2A>G	rs914395925

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