ClinVar Miner

List of variants reported as pathogenic for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Included ClinVar conditions (1):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.8556+1G>A rs764745270 0.00011
NM_005559.4(LAMA1):c.3919C>T (p.Arg1307Ter) rs767943611 0.00004
NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter) rs374851540 0.00003
NM_005559.4(LAMA1):c.2986del (p.Thr996fs) rs587777679 0.00003
NM_005559.4(LAMA1):c.1281C>A (p.Cys427Ter) rs1457194859 0.00001
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter) rs758223206 0.00001
NM_005559.4(LAMA1):c.3397C>T (p.Arg1133Ter) rs767889331 0.00001
NM_005559.4(LAMA1):c.7180C>T (p.Arg2394Ter) rs542213899 0.00001
NM_005559.3:c.2988_2989delA
NM_005559.4(LAMA1):c.1078del (p.Val360fs)
NM_005559.4(LAMA1):c.1189del (p.Cys397fs)
NM_005559.4(LAMA1):c.1404_1405del (p.Gly469fs) rs2144180003
NM_005559.4(LAMA1):c.2480G>A (p.Trp827Ter) rs2144143962
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs) rs587777680
NM_005559.4(LAMA1):c.2932_2933delinsG (p.Lys978fs)
NM_005559.4(LAMA1):c.2962del (p.Tyr988fs) rs2144126463
NM_005559.4(LAMA1):c.3053del (p.Pro1018fs) rs764581574
NM_005559.4(LAMA1):c.4075delinsCTA (p.Leu1359_Glu1360insTer)
NM_005559.4(LAMA1):c.4171_4172del (p.Arg1391fs)
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs) rs2057789980
NM_005559.4(LAMA1):c.4807-2A>G
NM_005559.4(LAMA1):c.494del (p.Ile165fs) rs2144202430
NM_005559.4(LAMA1):c.5235_5236del (p.Leu1746fs)
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter) rs1568019012
NM_005559.4(LAMA1):c.5512C>T (p.Gln1838Ter) rs376548651
NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter) rs587777681
NM_005559.4(LAMA1):c.5700dup (p.Ser1901fs)
NM_005559.4(LAMA1):c.588+2T>G rs587777677
NM_005559.4(LAMA1):c.6333dup (p.Gln2112fs)
NM_005559.4(LAMA1):c.6345+3G>C rs797045184
NM_005559.4(LAMA1):c.6489+1G>C rs2144036802
NM_005559.4(LAMA1):c.6701del (p.Pro2234fs) rs797045182
NM_005559.4(LAMA1):c.7965-15_7965-3del rs587777678
Single allele

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