ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001378454.1(ALMS1):c.10079-11C>T rs368250605 0.00151
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722 0.00044
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281 0.00034
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121 0.00028
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001378454.1(ALMS1):c.12362+17_12362+18del rs768207589 0.00021
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325 0.00019
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val) rs200944504 0.00018
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001378454.1(ALMS1):c.646+15T>G rs200821435 0.00013
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114 0.00009
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn) rs34029285 0.00007
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 0.00006
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052 0.00006
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe) rs538743256 0.00006
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys) rs780110659 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr) rs200432874 0.00005
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His) rs746162373 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9782-19C>A rs777706370 0.00004
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro) rs201451396 0.00003
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala) rs763680884 0.00003
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala) rs765405386 0.00003
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 0.00003
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly) rs560736902 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271 0.00002
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=) rs1278648561 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378454.1(ALMS1):c.10058C>G (p.Pro3353Arg) rs760647310 0.00001
NM_001378454.1(ALMS1):c.10078+2dup rs755740074 0.00001
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg) rs1674949532 0.00001
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu) rs765505349 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys) rs769734500 0.00001
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=) rs747504060 0.00001
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr) rs1337404560 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524 0.00001
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile) rs756805885 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr) rs564400636 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile) rs759914299 0.00001
NM_001378454.1(ALMS1):c.5575A>G (p.Ile1859Val) rs1558650343 0.00001
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys) rs45484791 0.00001
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile) rs1026749292 0.00001
NM_001378454.1(ALMS1):c.7067C>T (p.Ser2356Leu) rs757852651 0.00001
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile) rs1672944551 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu) rs534913971 0.00001
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr) rs773480197 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu) rs1475730829 0.00001
NM_001378454.1(ALMS1):c.9553A>T (p.Met3185Leu) rs1421714540 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NC_000002.11:g.(73682423_73716760)_(73762077_73777393)dup
NM_001378454.1(ALMS1):c.10051G>C (p.Glu3351Gln)
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.10462G>T (p.Val3488Leu) rs1057523167
NM_001378454.1(ALMS1):c.10577T>G (p.Met3526Arg)
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His) rs2104105279
NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro) rs1573030477
NM_001378454.1(ALMS1):c.10928C>G (p.Ser3643Cys)
NM_001378454.1(ALMS1):c.1093G>A (p.Asp365Asn) rs1229379546
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.11316G>T (p.Glu3772Asp) rs1019748558
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs) rs2104216255
NM_001378454.1(ALMS1):c.12448C>T (p.Gln4150Ter) rs2104216417
NM_001378454.1(ALMS1):c.12475C>T (p.Gln4159Ter)
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser)
NM_001378454.1(ALMS1):c.1570_1572dup (p.Ser524dup) rs797045226
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.3091A>G (p.Thr1031Ala)
NM_001378454.1(ALMS1):c.3323A>C (p.Gln1108Pro) rs570286860
NM_001378454.1(ALMS1):c.3325C>A (p.Gln1109Lys) rs1671890891
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu) rs757303904
NM_001378454.1(ALMS1):c.3731A>T (p.Lys1244Met) rs1671903375
NM_001378454.1(ALMS1):c.3763G>C (p.Asp1255His)
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
NM_001378454.1(ALMS1):c.4084G>C (p.Val1362Leu) rs534858351
NM_001378454.1(ALMS1):c.4111A>G (p.Thr1371Ala) rs1572934899
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys) rs751003573
NM_001378454.1(ALMS1):c.4808C>G (p.Pro1603Arg) rs1572935792
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) rs1057518311
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=) rs2103785042
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5183A>G (p.Asp1728Gly) rs879255405
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5362G>A (p.Val1788Ile) rs1224043321
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.557A>T (p.Asp186Val) rs375830111
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.65_66insAGA (p.Glu28dup) rs1553396148
NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys)
NM_001378454.1(ALMS1):c.6824A>G (p.Lys2275Arg) rs1057518307
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6864T>G (p.Asp2288Glu) rs2103791762
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile) rs200470452
NM_001378454.1(ALMS1):c.7331T>A (p.Leu2444Gln)
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg) rs1672006091
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.7675-13_7675-10del
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
NM_001378454.1(ALMS1):c.8114C>T (p.Pro2705Leu)
NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly) rs774945791
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly) rs1672950843
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=) rs1572970207
NM_001378454.1(ALMS1):c.9914A>T (p.Asn3305Ile)

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