ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic for Muscular dystrophy, limb-girdle, autosomal recessive 23

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
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
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter) rs1562200866
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs) rs1776950897
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4860+2delinsGGCC rs1562497781
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
Single allele

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