ClinVar Miner

List of variants reported as uncertain significance for Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.8253G>A (p.Leu2751=) rs139713073 0.00271
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln) rs116690149 0.00203
NM_005559.4(LAMA1):c.6257A>C (p.Lys2086Thr) rs142934543 0.00094
NM_005559.4(LAMA1):c.2808+5G>A rs201030108 0.00089
NM_005559.4(LAMA1):c.1619C>T (p.Pro540Leu) rs140908403 0.00041
NM_005559.4(LAMA1):c.3687+4A>C rs7226848 0.00039
NM_005559.4(LAMA1):c.7187G>A (p.Arg2396Gln) rs200776408 0.00038
NM_005559.4(LAMA1):c.2323G>A (p.Gly775Ser) rs28369373 0.00028
NM_005559.4(LAMA1):c.3745G>A (p.Val1249Ile) rs148225763 0.00026
NM_005559.4(LAMA1):c.7181G>A (p.Arg2394Gln) rs140792199 0.00025
NM_005559.4(LAMA1):c.371T>C (p.Ile124Thr) rs200657079 0.00024
NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser) rs202133880 0.00024
NM_005559.4(LAMA1):c.6779C>A (p.Ser2260Tyr) rs146652610 0.00016
NM_005559.4(LAMA1):c.415C>T (p.Arg139Cys) rs199854892 0.00015
NM_005559.4(LAMA1):c.7220A>G (p.Tyr2407Cys) rs199811630 0.00013
NM_005559.4(LAMA1):c.2524C>T (p.Pro842Ser) rs149208354 0.00011
NM_005559.4(LAMA1):c.485G>A (p.Arg162His) rs759415734 0.00011
NM_005559.4(LAMA1):c.3679G>A (p.Gly1227Arg) rs776158943 0.00009
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.7136A>T (p.Asp2379Val) rs372144286 0.00005
NM_005559.4(LAMA1):c.8263A>G (p.Met2755Val) rs373014487 0.00005
NM_005559.4(LAMA1):c.1846G>A (p.Gly616Arg) rs146460281 0.00004
NM_005559.4(LAMA1):c.6050C>T (p.Ser2017Phe) rs778208901 0.00004
NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg) rs747710308 0.00003
NM_005559.4(LAMA1):c.3052C>G (p.Pro1018Ala) rs750460729 0.00002
NM_005559.4(LAMA1):c.1862C>T (p.Thr621Ile) rs1372291355 0.00001
NM_005559.4(LAMA1):c.2274+3G>T rs1346412853 0.00001
NM_005559.4(LAMA1):c.2856C>G (p.Asn952Lys) rs576734629 0.00001
NM_005559.4(LAMA1):c.3191A>C (p.Gln1064Pro) rs535850595 0.00001
NM_005559.4(LAMA1):c.3391G>A (p.Glu1131Lys) rs773505947 0.00001
NM_005559.4(LAMA1):c.5584A>G (p.Arg1862Gly) rs773614520 0.00001
NM_005559.4(LAMA1):c.5660+5G>T rs767853385 0.00001
NM_005559.4(LAMA1):c.7124C>T (p.Thr2375Ile) rs533138285 0.00001
NM_005559.4(LAMA1):c.1211C>A (p.Ser404Tyr)
NM_005559.4(LAMA1):c.1280G>A (p.Cys427Tyr)
NM_005559.4(LAMA1):c.1653G>C (p.Gln551His)
NM_005559.4(LAMA1):c.1706G>C (p.Trp569Ser) rs1254270535
NM_005559.4(LAMA1):c.1738-2A>G
NM_005559.4(LAMA1):c.1957C>T (p.Gln653Ter) rs774616390
NM_005559.4(LAMA1):c.2135C>T (p.Pro712Leu)
NM_005559.4(LAMA1):c.2216G>A (p.Cys739Tyr) rs1555656402
NM_005559.4(LAMA1):c.242C>A (p.Pro81Gln)
NM_005559.4(LAMA1):c.2663G>T (p.Gly888Val) rs1555654766
NM_005559.4(LAMA1):c.2690A>G (p.Lys897Arg) rs2144141313
NM_005559.4(LAMA1):c.2700C>T (p.Arg900=)
NM_005559.4(LAMA1):c.2750A>C (p.Glu917Ala)
NM_005559.4(LAMA1):c.2879C>T (p.Ser960Leu)
NM_005559.4(LAMA1):c.3052C>T (p.Pro1018Ser)
NM_005559.4(LAMA1):c.3364-4G>T rs2057863581
NM_005559.4(LAMA1):c.4024G>C (p.Val1342Leu) rs2144110328
NM_005559.4(LAMA1):c.407T>C (p.Ile136Thr) rs2144202750
NM_005559.4(LAMA1):c.4328C>A (p.Thr1443Asn)
NM_005559.4(LAMA1):c.4663+6T>G
NM_005559.4(LAMA1):c.5071A>G (p.Thr1691Ala)
NM_005559.4(LAMA1):c.5171C>A (p.Ala1724Asp)
NM_005559.4(LAMA1):c.5726T>C (p.Ile1909Thr) rs199766289
NM_005559.4(LAMA1):c.5828C>T (p.Ala1943Val)
NM_005559.4(LAMA1):c.5873T>G (p.Leu1958Arg)
NM_005559.4(LAMA1):c.6029A>G (p.Lys2010Arg) rs2057692609
NM_005559.4(LAMA1):c.6145A>G (p.Thr2049Ala)
NM_005559.4(LAMA1):c.6191-29G>A
NM_005559.4(LAMA1):c.6557C>A (p.Ser2186Tyr) rs1261229691
NM_005559.4(LAMA1):c.7160G>A (p.Trp2387Ter)
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
NM_005559.4(LAMA1):c.7430T>C (p.Val2477Ala)
NM_005559.4(LAMA1):c.7603G>A (p.Gly2535Ser)
NM_005559.4(LAMA1):c.7610G>A (p.Arg2537His)
NM_005559.4(LAMA1):c.768+1G>A rs769174266
NM_005559.4(LAMA1):c.8282C>T (p.Ala2761Val)
NM_005559.4(LAMA1):c.8557-1G>C rs797045183
NM_005559.4(LAMA1):c.8825T>C (p.Leu2942Pro)
NM_005559.4(LAMA1):c.9068C>A (p.Ala3023Asp)
NM_005559.4(LAMA1):c.9160T>C (p.Phe3054Leu)

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