ClinVar Miner

List of variants in gene ALMS1 reported as likely benign by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
Download table as spreadsheet
HGVS dbSNP
NM_015120.4(ALMS1):c.10081+10T>C rs752454047
NM_015120.4(ALMS1):c.10082-19A>G rs935864365
NM_015120.4(ALMS1):c.10216+11T>C rs1553416883
NM_015120.4(ALMS1):c.10216+17G>C rs1553416885
NM_015120.4(ALMS1):c.10217-19G>A rs763103896
NM_015120.4(ALMS1):c.10392C>T (p.Ser3464=) rs760299487
NM_015120.4(ALMS1):c.1044A>G (p.Ser348=) rs1553400737
NM_015120.4(ALMS1):c.10863G>A (p.Arg3621=) rs373682259
NM_015120.4(ALMS1):c.11460C>T (p.Tyr3820=) rs373397289
NM_015120.4(ALMS1):c.11514A>G (p.Leu3838=) rs374164508
NM_015120.4(ALMS1):c.11550+12C>A rs755559102
NM_015120.4(ALMS1):c.11550+12C>T rs755559102
NM_015120.4(ALMS1):c.11550+13A>G rs753246208
NM_015120.4(ALMS1):c.11550+16T>C rs373935106
NM_015120.4(ALMS1):c.11550+7G>C rs1553418641
NM_015120.4(ALMS1):c.11551-19A>T rs760271173
NM_015120.4(ALMS1):c.11671+12A>G rs1553421500
NM_015120.4(ALMS1):c.11672-17A>G rs762591261
NM_015120.4(ALMS1):c.11745C>T (p.Ser3915=) rs374909171
NM_015120.4(ALMS1):c.11758T>C (p.Leu3920=) rs750372739
NM_015120.4(ALMS1):c.11781T>C (p.Thr3927=) rs368160921
NM_015120.4(ALMS1):c.1182A>T (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.11871T>C (p.His3957=) rs370489767
NM_015120.4(ALMS1):c.11875+12A>G rs193922691
NM_015120.4(ALMS1):c.11875+7T>A rs763235048
NM_015120.4(ALMS1):c.11875+9C>G rs768886966
NM_015120.4(ALMS1):c.1191G>A (p.Gln397=) rs368655814
NM_015120.4(ALMS1):c.12117+12T>C rs377393930
NM_015120.4(ALMS1):c.12117+14G>T rs1057524070
NM_015120.4(ALMS1):c.12117+19A>G rs760374917
NM_015120.4(ALMS1):c.12117+19A>T rs760374917
NM_015120.4(ALMS1):c.12150C>T (p.Ile4050=) rs374328093
NM_015120.4(ALMS1):c.12177C>T (p.Arg4059=) rs377661858
NM_015120.4(ALMS1):c.12301+14G>A rs755931726
NM_015120.4(ALMS1):c.12301+19C>T rs1553421935
NM_015120.4(ALMS1):c.12301+7C>T rs1252100215
NM_015120.4(ALMS1):c.12365+16C>G rs1553422061
NM_015120.4(ALMS1):c.12365+18A>T rs535484933
NM_015120.4(ALMS1):c.12366-14G>A rs377374398
NM_015120.4(ALMS1):c.1240+14T>C rs1482335275
NM_015120.4(ALMS1):c.1240+8C>A rs771449454
NM_015120.4(ALMS1):c.1240+9C>G rs201471551
NM_015120.4(ALMS1):c.1240+9C>T rs201471551
NM_015120.4(ALMS1):c.1241-20A>G rs771811655
NM_015120.4(ALMS1):c.12450C>T (p.Ala4150=) rs374020124
NM_015120.4(ALMS1):c.12462+12_12462+18del rs1374364094
NM_015120.4(ALMS1):c.12465+10T>C rs748315200
NM_015120.4(ALMS1):c.12465+12C>T rs1553422680
NM_015120.4(ALMS1):c.12465+19T>C rs1309452497
NM_015120.4(ALMS1):c.1341+11A>G rs1553400967
NM_015120.4(ALMS1):c.1341+18G>A rs369695595
NM_015120.4(ALMS1):c.1341+20T>A rs1466354765
NM_015120.4(ALMS1):c.1435+12A>G rs1553401640
NM_015120.4(ALMS1):c.1435+14G>A rs1204922039
NM_015120.4(ALMS1):c.1435+15G>A rs376610564
NM_015120.4(ALMS1):c.1435+16A>G rs1553401642
NM_015120.4(ALMS1):c.1435+7A>G rs1468328132
NM_015120.4(ALMS1):c.1440C>T (p.Asp480=) rs372610345
NM_015120.4(ALMS1):c.1698T>C (p.Thr566=) rs368992526
NM_015120.4(ALMS1):c.1713A>C (p.Val571=) rs201095989
NM_015120.4(ALMS1):c.1761G>A (p.Gln587=) rs377037998
NM_015120.4(ALMS1):c.1857C>T (p.Thr619=) rs1327400351
NM_015120.4(ALMS1):c.1980G>A (p.Thr660=) rs201316401
NM_015120.4(ALMS1):c.2025C>T (p.Asp675=) rs374151754
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2199C>T (p.Asp733=) rs754758293
NM_015120.4(ALMS1):c.237C>G (p.Ala79=) rs368947491
NM_015120.4(ALMS1):c.2475C>G (p.Ala825=) rs368270850
NM_015120.4(ALMS1):c.2820A>G (p.Val940=) rs376517753
NM_015120.4(ALMS1):c.2883A>G (p.Lys961=) rs1238528749
NM_015120.4(ALMS1):c.2925A>T (p.Leu975=) rs199769789
NM_015120.4(ALMS1):c.2928T>C (p.Pro976=) rs751486678
NM_015120.4(ALMS1):c.3099C>A (p.Gly1033=) rs368659119
NM_015120.4(ALMS1):c.3123T>A (p.Thr1041=) rs372764773
NM_015120.4(ALMS1):c.327+10G>C rs778690416
NM_015120.4(ALMS1):c.327+12C>T rs1553396311
NM_015120.4(ALMS1):c.327+14G>A rs1553396313
NM_015120.4(ALMS1):c.327+16G>C rs1276086207
NM_015120.4(ALMS1):c.327+16G>T rs1276086207
NM_015120.4(ALMS1):c.327+18G>A rs1553396316
NM_015120.4(ALMS1):c.327+7C>G rs1230102179
NM_015120.4(ALMS1):c.3327A>G (p.Gln1109=) rs780391682
NM_015120.4(ALMS1):c.3828A>G (p.Thr1276=) rs1553403752
NM_015120.4(ALMS1):c.3831T>C (p.Thr1277=) rs1553403755
NM_015120.4(ALMS1):c.4467G>A (p.Gln1489=) rs770845249
NM_015120.4(ALMS1):c.450+22_450+25del rs764559198
NM_015120.4(ALMS1):c.450+24_450+40del rs1553398860
NM_015120.4(ALMS1):c.453+11T>C rs763724672
NM_015120.4(ALMS1):c.453+11T>G rs763724672
NM_015120.4(ALMS1):c.453+12G>A rs1553398856
NM_015120.4(ALMS1):c.453+19G>A rs1553398858
NM_015120.4(ALMS1):c.453+7C>A rs775200355
NM_015120.4(ALMS1):c.454-16T>C rs1553399953
NM_015120.4(ALMS1):c.454-19T>C rs768590349
NM_015120.4(ALMS1):c.454-20T>C rs762592063
NM_015120.4(ALMS1):c.4830C>T (p.Asp1610=) rs371708421
NM_015120.4(ALMS1):c.4860A>G (p.Ala1620=) rs367772965
NM_015120.4(ALMS1):c.4875C>T (p.Pro1625=) rs372692493
NM_015120.4(ALMS1):c.5179C>T (p.Leu1727=) rs373864798
NM_015120.4(ALMS1):c.5202A>G (p.Gln1734=) rs374143515
NM_015120.4(ALMS1):c.5350C>T (p.Leu1784=) rs562434013
NM_015120.4(ALMS1):c.54G>A (p.Glu18=) rs1553396127
NM_015120.4(ALMS1):c.5559A>G (p.Pro1853=) rs372017680
NM_015120.4(ALMS1):c.5568G>A (p.Glu1856=) rs535259433
NM_015120.4(ALMS1):c.594A>G (p.Gln198=) rs373438786
NM_015120.4(ALMS1):c.6219A>G (p.Leu2073=) rs754288227
NM_015120.4(ALMS1):c.649+10G>A rs1553399998
NM_015120.4(ALMS1):c.649+8C>T rs760012033
NM_015120.4(ALMS1):c.6498T>C (p.Ala2166=) rs189124891
NM_015120.4(ALMS1):c.650-19_650-18insT rs1553400422
NM_015120.4(ALMS1):c.6546A>G (p.Leu2182=) rs1553404267
NM_015120.4(ALMS1):c.6618A>T (p.Leu2206=) rs375011895
NM_015120.4(ALMS1):c.6969C>T (p.Phe2323=) rs370287018
NM_015120.4(ALMS1):c.7020G>A (p.Gln2340=) rs190319211
NM_015120.4(ALMS1):c.7543+11A>G rs1553404509
NM_015120.4(ALMS1):c.7543+14T>G rs533780922
NM_015120.4(ALMS1):c.7543+20C>A rs1410444926
NM_015120.4(ALMS1):c.7544-17G>C rs758134188
NM_015120.4(ALMS1):c.7544-19G>A rs1553404624
NM_015120.4(ALMS1):c.75G>A (p.Glu25=) rs1483677896
NM_015120.4(ALMS1):c.7656A>T (p.Gly2552=) rs1553404658
NM_015120.4(ALMS1):c.767+14T>C rs1553400457
NM_015120.4(ALMS1):c.767+19A>G rs1035974697
NM_015120.4(ALMS1):c.767+9A>T rs551013858
NM_015120.4(ALMS1):c.7677+10A>G rs1553404676
NM_015120.4(ALMS1):c.7677+9G>T rs1046548369
NM_015120.4(ALMS1):c.7678-19G>A rs1399037677
NM_015120.4(ALMS1):c.768-16A>G rs765256601
NM_015120.4(ALMS1):c.7746C>T (p.Ser2582=) rs370740871
NM_015120.4(ALMS1):c.7764C>T (p.Phe2588=) rs1553409598
NM_015120.4(ALMS1):c.8580G>A (p.Ser2860=) rs199850691
NM_015120.4(ALMS1):c.8904A>G (p.Glu2968=) rs371736476
NM_015120.4(ALMS1):c.8931A>G (p.Val2977=) rs373374154
NM_015120.4(ALMS1):c.9021C>T (p.His3007=) rs376757358
NM_015120.4(ALMS1):c.9324A>G (p.Val3108=) rs371108940
NM_015120.4(ALMS1):c.9363A>G (p.Lys3121=) rs368408369
NM_015120.4(ALMS1):c.9540-16del rs765235024
NM_015120.4(ALMS1):c.9542+10A>G rs1553409904
NM_015120.4(ALMS1):c.9542+13G>C rs369860432
NM_015120.4(ALMS1):c.9542+20C>T rs759559244
NM_015120.4(ALMS1):c.9784+11G>A rs970258030
NM_015120.4(ALMS1):c.9784+19A>C rs895296631
NM_015120.4(ALMS1):c.9785-18T>C rs995894081
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015120.4(ALMS1):c.9891C>T (p.Thr3297=) rs372451785
NM_015120.4(ALMS1):c.9910+14A>G rs1402624178
NM_015120.4(ALMS1):c.9910+17A>C rs772675597
NM_015120.4(ALMS1):c.9910+17A>G rs772675597
NM_015120.4(ALMS1):c.9910+20C>A rs74730457
NM_015120.4(ALMS1):c.9910+7T>G rs375870610
NM_015120.4(ALMS1):c.991C>T (p.Leu331=) rs187880759

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.