ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
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.11413C>T (p.Arg3805Ter)
NM_001378454.1(ALMS1):c.11574_11575CT[1] (p.Ser3859fs)
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs)
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)
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.367C>T (p.Gln123Ter)
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
NM_015120.4(ALMS1):c.10134dup (p.Gln3379fs) rs1553416867
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.10800_10803del rs1553418500
NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter) rs1473611414
NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter) rs193919339
NM_015120.4(ALMS1):c.11316_11319del rs747272625
NM_015120.4(ALMS1):c.11418_11422AATTA[1] (p.Lys3808fs) rs1553418609
NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter) rs940576720
NM_015120.4(ALMS1):c.11450_11451AG[1] (p.Arg3818fs) rs776599992
NM_015120.4(ALMS1):c.11618_11619del rs1476205467
NM_015120.4(ALMS1):c.11647_11648del (p.Met3883fs) rs1573052379
NM_015120.4(ALMS1):c.11717_11720del (p.Val3906fs) rs932538480
NM_015120.4(ALMS1):c.11726del (p.Thr3909fs) rs1573053412
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.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter) rs1553403321
NM_015120.4(ALMS1):c.2179dup (p.Tyr727fs) rs771459937
NM_015120.4(ALMS1):c.2273del (p.Pro758fs) rs1572932377
NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) rs539612316
NM_015120.4(ALMS1):c.3019dup (p.Arg1007fs) rs878854998
NM_015120.4(ALMS1):c.301G>T (p.Glu101Ter) rs1254495717
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.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.5590C>T (p.Gln1864Ter) rs769440001
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.60_61insTAGGAG (p.Glu21Ter) rs1574423697
NM_015120.4(ALMS1):c.6167_6168AT[3] (p.Leu2058fs) rs759603306
NM_015120.4(ALMS1):c.6375del (p.Pro2126fs) rs1553404220
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
NM_015120.4(ALMS1):c.6590del (p.Lys2197fs) rs1553404283
NM_015120.4(ALMS1):c.6800T>A (p.Leu2267Ter) rs761071372
NM_015120.4(ALMS1):c.6850dup (p.Leu2284fs) rs1558651349
NM_015120.4(ALMS1):c.6960_6963del rs1553404377
NM_015120.4(ALMS1):c.712G>T (p.Glu238Ter) rs989080548
NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter) rs1060500039
NM_015120.4(ALMS1):c.7304_7305del rs1246023978
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.8144_8151del (p.Ser2715fs) rs1553409686
NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) rs193919340
NM_015120.4(ALMS1):c.8766C>A (p.Cys2922Ter) rs765908556
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
Single allele

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