ClinVar Miner

List of variants in gene LAMA1 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.6257A>C (p.Lys2086Thr) rs142934543 0.00094
NM_005559.4(LAMA1):c.6152G>A (p.Arg2051Gln) rs145781920 0.00068
NM_005559.4(LAMA1):c.5789C>T (p.Thr1930Met) rs142286229 0.00036
NM_005559.4(LAMA1):c.7550C>T (p.Thr2517Met) rs376219041 0.00033
NM_005559.4(LAMA1):c.7600C>T (p.Arg2534Trp) rs376978539 0.00033
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn) rs201831309 0.00007
NM_005559.4(LAMA1):c.7897G>A (p.Gly2633Arg) rs769644598 0.00007
NM_005559.4(LAMA1):c.3110C>T (p.Ala1037Val) rs149260074 0.00004
NM_005559.4(LAMA1):c.944C>T (p.Pro315Leu) rs201386303 0.00004
NM_005559.4(LAMA1):c.1054G>A (p.Ala352Thr)
NM_005559.4(LAMA1):c.1207G>A (p.Gly403Arg)
NM_005559.4(LAMA1):c.2593_2687dup (p.Ala896_Lys897insGlnSerProGlySerAlaTer)
NM_005559.4(LAMA1):c.3272A>G (p.Asp1091Gly) rs2144121334
NM_005559.4(LAMA1):c.679C>T (p.Arg227Cys)
NM_005559.4(LAMA1):c.7024C>A (p.Leu2342Ile)
NM_005559.4(LAMA1):c.7142G>A (p.Arg2381His)
NM_005559.4(LAMA1):c.7282C>A (p.Arg2428Ser)
NM_005559.4(LAMA1):c.98C>G (p.Ala33Gly)
NM_005559.4(LAMA1):c.[2932A>G;2935del]

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