ClinVar Miner

List of variants in gene LAMA1 reported as benign for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.5380-13G>A rs617573 0.82747
NM_005559.4(LAMA1):c.5496+20A>G rs616722 0.82650
NM_005559.4(LAMA1):c.6004A>G (p.Lys2002Glu) rs607230 0.68054
NM_005559.4(LAMA1):c.2763T>C (p.Cys921=) rs539713 0.61217
NM_005559.4(LAMA1):c.3378T>C (p.Gly1126=) rs9946794 0.48883
NM_005559.4(LAMA1):c.2493T>C (p.Cys831=) rs684634 0.48817
NM_005559.4(LAMA1):c.5391G>A (p.Leu1797=) rs617206 0.48492
NM_005559.4(LAMA1):c.5496+19C>T rs523711 0.48483
NM_005559.4(LAMA1):c.2109C>T (p.Ala703=) rs621993 0.46872
NM_005559.4(LAMA1):c.2051+14A>T rs674733 0.46819
NM_005559.4(LAMA1):c.3573C>T (p.Thr1191=) rs619106 0.39038
NM_005559.4(LAMA1):c.6227T>C (p.Ile2076Thr) rs671871 0.29406
NM_005559.4(LAMA1):c.3126+7A>G rs603258 0.25992
NM_005559.4(LAMA1):c.8982C>T (p.Asp2994=) rs2016639 0.25393
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala) rs12961939 0.21927
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr) rs566655 0.20323
NM_005559.4(LAMA1):c.4026T>G (p.Val1342=) rs73938538 0.15758
NM_005559.4(LAMA1):c.5288C>T (p.Ala1763Val) rs12607841 0.13777
NM_005559.4(LAMA1):c.6345+7T>C rs10164200 0.12418
NM_005559.4(LAMA1):c.2274+70dup rs113133818
NM_005559.4(LAMA1):c.4479A>G (p.Ser1493=) rs625106

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