ClinVar Miner

List of variants in gene ALMS1 reported as likely pathogenic for Alstrom syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00002
NM_001378454.1(ALMS1):c.10078+1G>T rs765075310 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.12299-2A>G rs759788656 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.7675-2A>G rs748477695 0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NC_000002.11:g.(73786270_73799388)_(73800552_73826527)del
NC_000002.11:g.(?_73651548)_(73653691_?)dup
NC_000002.11:g.(?_73682279)_(73682432_?)dup
NC_000002.11:g.(?_73716741)_(73718645_?)dup
NC_000002.11:g.(?_73716751)_(73762086_?)dup
NC_000002.11:g.(?_73777384)_(73800561_?)dup
NC_000002.11:g.(?_73799379)_(73800561_?)dup
NM_001378454.1(ALMS1):c.1000A>T (p.Lys334Ter)
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs) rs1553416233
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10079-2A>G
NM_001378454.1(ALMS1):c.10121C>A (p.Ser3374Ter)
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10213+1G>T
NM_001378454.1(ALMS1):c.10213_10213+2del
NM_001378454.1(ALMS1):c.10214-2A>G rs2104063527
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs) rs1553417044
NM_001378454.1(ALMS1):c.10288A>T (p.Lys3430Ter)
NM_001378454.1(ALMS1):c.10321A>T (p.Lys3441Ter)
NM_001378454.1(ALMS1):c.10346G>A (p.Trp3449Ter)
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)
NM_001378454.1(ALMS1):c.10436_10439del (p.Arg3478_Ser3479insTer)
NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter)
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs) rs1220975714
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs) rs1553418449
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer) rs1553418457
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10798G>T (p.Glu3600Ter)
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs) rs1553418505
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs) rs1553418512
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs) rs1553418513
NM_001378454.1(ALMS1):c.10874T>A (p.Leu3625Ter)
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.10984G>T (p.Glu3662Ter)
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.1150del (p.Arg384fs)
NM_001378454.1(ALMS1):c.11547+1G>A rs1553418638
NM_001378454.1(ALMS1):c.11547+2T>C
NM_001378454.1(ALMS1):c.11547+3A>T rs1271250182
NM_001378454.1(ALMS1):c.11548-2A>G
NM_001378454.1(ALMS1):c.11548-4_11549del
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs) rs1553421488
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter) rs1675625092
NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs) rs2104189157
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.11669-22_11686del
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11718del (p.Gly3906_Ile3907insTer) rs1573053394
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.1178C>A (p.Ser393Ter)
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11872+2T>A rs1553421657
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs) rs1553400778
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.12299-1G>C
NM_001378454.1(ALMS1):c.12299-1del
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs) rs764503373
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs) rs1553422035
NM_001378454.1(ALMS1):c.12362+1G>A rs2104203068
NM_001378454.1(ALMS1):c.12363-2A>C rs2104216032
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.1237+2T>G rs916056435
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs) rs1553400956
NM_001378454.1(ALMS1):c.1324G>T (p.Glu442Ter)
NM_001378454.1(ALMS1):c.1336A>T (p.Lys446Ter)
NM_001378454.1(ALMS1):c.1432+1G>T rs1553401634
NM_001378454.1(ALMS1):c.1432+2T>A rs2103734661
NM_001378454.1(ALMS1):c.1432+2T>C
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1433-2A>G rs2103770992
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs) rs1572931120
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs) rs1553403262
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1645G>T (p.Glu549Ter)
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs) rs2103771766
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs) rs1553396238
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter) rs773971557
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs) rs1553403401
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs) rs1457500348
NM_001378454.1(ALMS1):c.2333T>A (p.Leu778Ter)
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.2590G>T (p.Gly864Ter)
NM_001378454.1(ALMS1):c.2686C>T (p.Gln896Ter)
NM_001378454.1(ALMS1):c.2689A>T (p.Lys897Ter)
NM_001378454.1(ALMS1):c.2728_2731del (p.His910fs) rs1558648189
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs) rs1553403560
NM_001378454.1(ALMS1):c.281del (p.Pro94fs) rs2104060044
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.284dup (p.His96fs) rs1553396293
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter) rs1553396296
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs) rs1553403598
NM_001378454.1(ALMS1):c.3176T>A (p.Leu1059Ter)
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3463C>T (p.His1155Tyr) rs2103779035
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs) rs1553403685
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.3712_3715del (p.Ser1238fs)
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3778G>T (p.Glu1260Ter)
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_001378454.1(ALMS1):c.3868A>T (p.Arg1290Ter)
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs) rs1553403762
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.3952G>T (p.Gly1318Ter)
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter) rs2103780942
NM_001378454.1(ALMS1):c.4149dup (p.His1384fs) rs1671915447
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4300A>T (p.Lys1434Ter)
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs) rs1553403864
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4351G>T (p.Glu1451Ter)
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs) rs1553403882
NM_001378454.1(ALMS1):c.450+1G>A rs1302255267
NM_001378454.1(ALMS1):c.450+2T>C rs1671019928
NM_001378454.1(ALMS1):c.451-2A>G
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
NM_001378454.1(ALMS1):c.4838del (p.Gly1613fs)
NM_001378454.1(ALMS1):c.4960A>T (p.Lys1654Ter)
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs) rs1553403989
NM_001378454.1(ALMS1):c.5143A>T (p.Arg1715Ter) rs773513360
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs) rs1553404028
NM_001378454.1(ALMS1):c.5239C>T (p.Gln1747Ter)
NM_001378454.1(ALMS1):c.5240A>T (p.Gln1747Leu) rs1572936360
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs) rs1553404066
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5553C>A (p.Tyr1851Ter)
NM_001378454.1(ALMS1):c.5560A>T (p.Arg1854Ter)
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs) rs1057517445
NM_001378454.1(ALMS1):c.5653A>T (p.Lys1885Ter)
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys) rs2103787360
NM_001378454.1(ALMS1):c.5726del (p.Glu1909fs) rs1572936972
NM_001378454.1(ALMS1):c.5830A>T (p.Arg1944Ter)
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs) rs1553404150
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs) rs1553404156
NM_001378454.1(ALMS1):c.5903C>A (p.Ser1968Ter)
NM_001378454.1(ALMS1):c.5929A>T (p.Lys1977Ter)
NM_001378454.1(ALMS1):c.5964C>A (p.Tyr1988Ter)
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter) rs777080769
NM_001378454.1(ALMS1):c.5977A>T (p.Lys1993Ter)
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.6070A>T (p.Lys2024Ter)
NM_001378454.1(ALMS1):c.6175C>T (p.Gln2059Ter)
NM_001378454.1(ALMS1):c.6205A>T (p.Lys2069Ter)
NM_001378454.1(ALMS1):c.6269del (p.Ser2090fs) rs1572937636
NM_001378454.1(ALMS1):c.646+2T>A rs1572911143
NM_001378454.1(ALMS1):c.646+2T>C rs1572911143
NM_001378454.1(ALMS1):c.647-2A>T rs1671310097
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.6487G>T (p.Glu2163Ter)
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs) rs1553404277
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs) rs1553404305
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6910A>T (p.Lys2304Ter)
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs) rs1553404368
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs) rs1553400437
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs) rs1553404457
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs) rs1553404473
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs) rs1217507627
NM_001378454.1(ALMS1):c.7540+1G>A
NM_001378454.1(ALMS1):c.7540+1G>T
NM_001378454.1(ALMS1):c.7540+2T>C rs1672009270
NM_001378454.1(ALMS1):c.7544G>A (p.Trp2515Ter)
NM_001378454.1(ALMS1):c.765-1G>C
NM_001378454.1(ALMS1):c.769del (p.Ile257fs) rs1553400675
NM_001378454.1(ALMS1):c.7777G>T (p.Glu2593Ter)
NM_001378454.1(ALMS1):c.7806T>A (p.Cys2602Ter)
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.7898T>A (p.Leu2633Ter)
NM_001378454.1(ALMS1):c.7969_7975del (p.Phe2657fs)
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs) rs1553409656
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8077G>T (p.Glu2693Ter)
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs) rs1182262187
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.8435T>A (p.Leu2812Ter)
NM_001378454.1(ALMS1):c.8490T>A (p.Cys2830Ter)
NM_001378454.1(ALMS1):c.8529_8530insA (p.Leu2844fs) rs2103892164
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.9064C>T (p.Gln3022Ter)
NM_001378454.1(ALMS1):c.9121A>T (p.Arg3041Ter)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9226A>T (p.Lys3076Ter)
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs) rs1553400709
NM_001378454.1(ALMS1):c.9427A>T (p.Lys3143Ter)
NM_001378454.1(ALMS1):c.9539+1G>T rs1553409901
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs) rs1553412797
NM_001378454.1(ALMS1):c.9781+1G>C
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-1271_9845del
NM_001378454.1(ALMS1):c.9782-1G>A rs1673992163
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter) rs368412850
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs) rs1553414071
NM_001378454.1(ALMS1):c.9823A>T (p.Lys3275Ter)
NM_001378454.1(ALMS1):c.9850C>T (p.Gln3284Ter)
NM_001378454.1(ALMS1):c.985G>T (p.Glu329Ter)
NM_001378454.1(ALMS1):c.985_986del (p.Glu329fs)
NM_001378454.1(ALMS1):c.9907+1G>A
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894

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