ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
Download table as spreadsheet
HGVS dbSNP
ALMS1, 19-BP INS
ALMS1, 333-BP ALU INS, EX16
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NM_001378454.1(ALMS1):c.10292_10293insT (p.Ile3432fs)
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)
NM_001378454.1(ALMS1):c.10385-2A>G
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs)
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs)
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter)
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs)
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs)
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs) rs776599992
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs)
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs)
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11668+1G>A
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs)
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs)
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs)
NM_001378454.1(ALMS1):c.11904_11908del (p.Val3968_Glu3969insTer)
NM_001378454.1(ALMS1):c.12044del (p.Gly4015fs)
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter)
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)
NM_001378454.1(ALMS1):c.1403_1404del (p.Val468fs)
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)
NM_001378454.1(ALMS1):c.149del (p.Ala50fs)
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer) rs1572931360
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs)
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)
NM_001378454.1(ALMS1):c.2070dup (p.Gln691fs)
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2164_2165insT (p.Pro722fs)
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)
NM_001378454.1(ALMS1):c.2218del (p.Thr741fs)
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs)
NM_001378454.1(ALMS1):c.2273_2274del (p.Ala758fs)
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs)
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter)
NM_001378454.1(ALMS1):c.2734_2737del (p.Glu912fs)
NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter)
NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter)
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)
NM_001378454.1(ALMS1):c.2955_2956insTGAC (p.Gly986Ter)
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
NM_001378454.1(ALMS1):c.3012del (p.His1005fs)
NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs)
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter)
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs)
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)
NM_001378454.1(ALMS1):c.3522dup (p.Thr1175fs)
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs)
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs)
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5051_5057del (p.His1683_Leu1684insTer)
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs)
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs)
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)
NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter)
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs)
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs)
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs)
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer)
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7334dup (p.Asn2445fs)
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
NM_001378454.1(ALMS1):c.870del (p.Ser290fs)
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
NM_001378454.1(ALMS1):c.8790_8791del (p.Phe2930fs)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs)
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs)
NM_001378454.1(ALMS1):c.974_981del (p.Ile324_Ser325insTer)
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
NM_015120.4(ALMS1):c.10134dup (p.Gln3379fs) rs1553416867
NM_015120.4(ALMS1):c.10149dup (p.Ser3384fs) rs1553416872
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter) rs772624348
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015120.4(ALMS1):c.10679del (p.Val3560fs) rs1573030204
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter) rs1473611414
NM_015120.4(ALMS1):c.10945G>T (p.Glu3649Ter) rs397514576
NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter) rs193919339
NM_015120.4(ALMS1):c.11116_11134del (p.Arg3706fs) rs398122992
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) rs768759374
NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter) rs940576720
NM_015120.4(ALMS1):c.11551del
NM_015120.4(ALMS1):c.11647_11648del (p.Met3883fs) rs1573052379
NM_015120.4(ALMS1):c.11651_11652insGTTA (p.Asn3885fs) rs760264695
NM_015120.4(ALMS1):c.11717_11720del (p.Val3906fs) rs932538480
NM_015120.4(ALMS1):c.11726del (p.Thr3909fs) rs1573053412
NM_015120.4(ALMS1):c.11787G>A (p.Trp3929Ter) rs1318520999
NM_015120.4(ALMS1):c.11812dup (p.Met3938fs) rs757722767
NM_015120.4(ALMS1):c.11994G>A (p.Trp3998Ter) rs1553421725
NM_015120.4(ALMS1):c.1199_1205del (p.Thr400fs) rs761292021
NM_015120.4(ALMS1):c.1211C>G (p.Ser404Ter)
NM_015120.4(ALMS1):c.164T>A (p.Leu55Ter) rs755760721
NM_015120.4(ALMS1):c.1730C>G (p.Ser577Ter) rs756389027
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.1794_1801dup (p.Lys601delinsArgLeuTer) rs398122991
NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter) rs1553403321
NM_015120.4(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_015120.4(ALMS1):c.2179dup (p.Tyr727fs) rs771459937
NM_015120.4(ALMS1):c.2273del (p.Pro758fs) rs1572932377
NM_015120.4(ALMS1):c.2329C>T (p.Gln777Ter) rs758195453
NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) rs539612316
NM_015120.4(ALMS1):c.286C>T (p.Gln96Ter) rs750326619
NM_015120.4(ALMS1):c.3019dup (p.Arg1007fs) rs878854998
NM_015120.4(ALMS1):c.301G>T (p.Glu101Ter) rs1254495717
NM_015120.4(ALMS1):c.3300_3301del (p.Lys1103fs) rs1553403653
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015120.4(ALMS1):c.362_363del (p.Ile121fs) rs1553398842
NM_015120.4(ALMS1):c.363_366dup (p.Tyr123fs) rs753301358
NM_015120.4(ALMS1):c.3690_3691del (p.Gly1231fs) rs1296683633
NM_015120.4(ALMS1):c.3870T>G (p.Tyr1290Ter) rs369314182
NM_015120.4(ALMS1):c.4156dup (p.Thr1386fs) rs797045228
NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter) rs969786171
NM_015120.4(ALMS1):c.430C>T (p.Gln144Ter) rs150825781
NM_015120.4(ALMS1):c.4393C>T (p.Gln1465Ter) rs904289501
NM_015120.4(ALMS1):c.4648dup (p.Arg1550fs) rs1553403917
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.5465del (p.Pro1822fs) rs770264966
NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter) rs769440001
NM_015120.4(ALMS1):c.5630dup (p.Gly1878fs) rs1553404109
NM_015120.4(ALMS1):c.563dup (p.Ser190fs) rs1439541639
NM_015120.4(ALMS1):c.5735del (p.Pro1912fs) rs763048583
NM_015120.4(ALMS1):c.5906C>G (p.Ser1969Ter) rs1490127694
NM_015120.4(ALMS1):c.5926del (p.Glu1976fs) rs398122994
NM_015120.4(ALMS1):c.60_61insTAGGAG (p.Glu21Ter) rs1574423697
NM_015120.4(ALMS1):c.6375del (p.Pro2126fs) rs1553404220
NM_015120.4(ALMS1):c.6411_6412insCCTA (p.Ala2138fs) rs1553404233
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs) rs1034630858
NM_015120.4(ALMS1):c.6590del (p.Lys2197fs) rs1553404283
NM_015120.4(ALMS1):c.6775del (p.Thr2259fs) rs1553404310
NM_015120.4(ALMS1):c.6800T>A (p.Leu2267Ter) rs761071372
NM_015120.4(ALMS1):c.6840del (p.Pro2281fs) rs1553404337
NM_015120.4(ALMS1):c.6850dup (p.Leu2284fs) rs1558651349
NM_015120.4(ALMS1):c.6901del (p.Val2301fs) rs1553404358
NM_015120.4(ALMS1):c.7090del (p.Leu2364fs) rs1553404395
NM_015120.4(ALMS1):c.712G>T (p.Glu238Ter) rs989080548
NM_015120.4(ALMS1):c.7135C>T (p.Leu2379Phe)
NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter) rs1060500039
NM_015120.4(ALMS1):c.7316C>A (p.Ser2439Ter) rs1558651680
NM_015120.4(ALMS1):c.7375_7376del (p.Thr2458_Asp2459insTer) rs1225343345
NM_015120.4(ALMS1):c.7376_7379del (p.Asp2459fs) rs1370417967
NM_015120.4(ALMS1):c.7674+1G>A rs1417025395
NM_015120.4(ALMS1):c.7789C>T (p.Gln2597Ter)
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.806_808del (p.Ser269_Arg270delinsTer) rs758952057
NM_015120.4(ALMS1):c.808C>T (p.Arg270Ter) rs1426009756
NM_015120.4(ALMS1):c.8136del (p.Phe2712fs) rs1553409683
NM_015120.4(ALMS1):c.8144_8151del (p.Ser2715fs) rs1553409686
NM_015120.4(ALMS1):c.8155dup (p.Ser2719fs) rs1553409691
NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) rs193919340
NM_015120.4(ALMS1):c.8352_8355del (p.Lys2784_Glu2785insTer) rs1553409710
NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter) rs193919338
NM_015120.4(ALMS1):c.8394dup (p.Leu2799fs) rs1553409715
NM_015120.4(ALMS1):c.8766C>A (p.Cys2922Ter) rs765908556
NM_015120.4(ALMS1):c.9116del (p.Pro3039fs) rs1425609364
NM_015120.4(ALMS1):c.9194T>G (p.Leu3065Ter) rs1434010689
NM_015120.4(ALMS1):c.9254del (p.Asn3085fs) rs1572970628
NM_015120.4(ALMS1):c.9422_9423del (p.Gln3141fs) rs1558667882
NM_015120.4(ALMS1):c.9433dup (p.Thr3145fs) rs878855003
NM_015120.4(ALMS1):c.9541C>T (p.Arg3181Ter) rs563393715
NM_015120.4(ALMS1):c.9832_9835dup (p.Tyr3279fs) rs1573000963
NM_015120.4(ALMS1):c.9900dup (p.Ser3301fs) rs754702823
NM_015120.4(ALMS1):c.[3902C>A];[6436C>T]
NM_015120.4:c.(?_9911)_(11550_?)del
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.