ClinVar Miner

List of variants in gene LAMA1 studied for Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

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Total variants: 155
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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.1183C>T (p.Arg395Cys) rs148751644 0.00282
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.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.6257A>C (p.Lys2086Thr) rs142934543 0.00094
NM_005559.4(LAMA1):c.2808+5G>A rs201030108 0.00089
NM_005559.4(LAMA1):c.4737C>T (p.Asn1579=) rs201505782 0.00058
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.858+1G>T rs141914419 0.00012
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.8556+1G>A rs764745270 0.00011
NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala) rs368665310 0.00009
NM_005559.4(LAMA1):c.3679G>A (p.Gly1227Arg) rs776158943 0.00009
NM_005559.4(LAMA1):c.8962C>T (p.Arg2988Cys) rs138692442 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.3919C>T (p.Arg1307Ter) rs767943611 0.00004
NM_005559.4(LAMA1):c.6050C>T (p.Ser2017Phe) rs778208901 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.4555G>C (p.Gly1519Arg) rs747710308 0.00003
NM_005559.4(LAMA1):c.3052C>G (p.Pro1018Ala) rs750460729 0.00002
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.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.3397C>T (p.Arg1133Ter) rs767889331 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.7180C>T (p.Arg2394Ter) rs542213899 0.00001
NM_005559.4(LAMA1):c.767G>A (p.Arg256His) rs748576952 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.1211C>A (p.Ser404Tyr)
NM_005559.4(LAMA1):c.1280G>A (p.Cys427Tyr)
NM_005559.4(LAMA1):c.1404_1405del (p.Gly469fs) rs2144180003
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.2274+70dup rs113133818
NM_005559.4(LAMA1):c.242C>A (p.Pro81Gln)
NM_005559.4(LAMA1):c.2480G>A (p.Trp827Ter) rs2144143962
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.279_280delinsTT (p.Trp93_Gln94delinsCysTer)
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs) rs587777680
NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg) rs2143782472
NM_005559.4(LAMA1):c.2879C>T (p.Ser960Leu)
NM_005559.4(LAMA1):c.2932_2933delinsG (p.Lys978fs)
NM_005559.4(LAMA1):c.2935del (p.Arg979fs) rs758601967
NM_005559.4(LAMA1):c.2962del (p.Tyr988fs) rs2144126463
NM_005559.4(LAMA1):c.3052C>T (p.Pro1018Ser)
NM_005559.4(LAMA1):c.3053del (p.Pro1018fs) rs764581574
NM_005559.4(LAMA1):c.3364-4G>T rs2057863581
NM_005559.4(LAMA1):c.4024G>C (p.Val1342Leu) rs2144110328
NM_005559.4(LAMA1):c.4075delinsCTA (p.Leu1359_Glu1360insTer)
NM_005559.4(LAMA1):c.407T>C (p.Ile136Thr) rs2144202750
NM_005559.4(LAMA1):c.4171_4172del (p.Arg1391fs)
NM_005559.4(LAMA1):c.4328C>A (p.Thr1443Asn)
NM_005559.4(LAMA1):c.4479A>G (p.Ser1493=) rs625106
NM_005559.4(LAMA1):c.4663+6T>G
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs) rs2057789980
NM_005559.4(LAMA1):c.4715del (p.Gly1572fs)
NM_005559.4(LAMA1):c.4763del (p.Tyr1588fs)
NM_005559.4(LAMA1):c.4807-2A>G
NM_005559.4(LAMA1):c.494del (p.Ile165fs) rs2144202430
NM_005559.4(LAMA1):c.5071A>G (p.Thr1691Ala)
NM_005559.4(LAMA1):c.5108dup (p.Glu1704fs)
NM_005559.4(LAMA1):c.5171C>A (p.Ala1724Asp)
NM_005559.4(LAMA1):c.5235_5236del (p.Leu1746fs)
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter) rs1568019012
NM_005559.4(LAMA1):c.5467C>T (p.Gln1823Ter) rs2057730983
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.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.588+2T>G rs587777677
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.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.6557C>A (p.Ser2186Tyr) rs1261229691
NM_005559.4(LAMA1):c.6701del (p.Pro2234fs) rs797045182
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs) rs2144018381
NM_005559.4(LAMA1):c.7160G>A (p.Trp2387Ter)
NM_005559.4(LAMA1):c.7195+2T>A
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
NM_005559.4(LAMA1):c.7430T>C (p.Val2477Ala)
NM_005559.4(LAMA1):c.7452+1G>A
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.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn) rs2057544094
NM_005559.4(LAMA1):c.8282C>T (p.Ala2761Val)
NM_005559.4(LAMA1):c.8557-1G>C rs797045183
NM_005559.4(LAMA1):c.8622del (p.Asp2874fs)
NM_005559.4(LAMA1):c.8668C>T (p.Gln2890Ter) rs2143969631
NM_005559.4(LAMA1):c.8737del (p.Asp2913fs) rs776769192
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter) rs1480105908
NM_005559.4(LAMA1):c.876_882delinsCATTTA (p.Glu293fs) rs2058035458
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)
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs) rs1555640521
Single allele

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