ClinVar Miner

List of variants studied for Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.1183C>T (p.Arg395Cys) rs148751644 0.00282
NM_005559.4(LAMA1):c.5481A>G (p.Val1827=) rs138711280 0.00201
NM_005559.4(LAMA1):c.4554C>T (p.His1518=) rs145068849 0.00176
NM_005559.4(LAMA1):c.7446A>G (p.Leu2482=) rs145257845 0.00144
NM_005559.4(LAMA1):c.6066G>A (p.Ala2022=) rs150951157 0.00101
NM_005559.4(LAMA1):c.4737C>T (p.Asn1579=) rs201505782 0.00058
NM_005559.4(LAMA1):c.2323G>A (p.Gly775Ser) rs28369373 0.00028
NM_005559.4(LAMA1):c.7220A>G (p.Tyr2407Cys) rs199811630 0.00013
NM_005559.4(LAMA1):c.8556+1G>A rs764745270 0.00011
NM_005559.4(LAMA1):c.3679G>A (p.Gly1227Arg) rs776158943 0.00009
NM_005559.4(LAMA1):c.1280G>A (p.Cys427Tyr)
NM_005559.4(LAMA1):c.2750A>C (p.Glu917Ala)
NM_005559.4(LAMA1):c.4328C>A (p.Thr1443Asn)
NM_005559.4(LAMA1):c.7610G>A (p.Arg2537His)

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