ClinVar Miner

List of variants reported as uncertain significance for Alstrom syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 469
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HGVS dbSNP
NC_000002.11:g.(?_73114549)_(73836749_?)dup
NC_000002.12:g.(?_73603231)_(73609622_?)del
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val)
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu)
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506
NM_001378454.1(ALMS1):c.10148G>A (p.Ser3383Asn) rs1553416873
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser) rs145678202
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg)
NM_001378454.1(ALMS1):c.10251A>G (p.Gln3417=)
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr)
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp) rs928444733
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu)
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys) rs761712682
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His)
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr)
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln)
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met) rs760321819
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His)
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser)
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser) rs758987316
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg) rs752099349
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly)
NM_001378454.1(ALMS1):c.10930C>G (p.Leu3644Val) rs1060500033
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg)
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428
NM_001378454.1(ALMS1):c.11006A>G (p.Gln3669Arg) rs773767346
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu)
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr) rs878854995
NM_001378454.1(ALMS1):c.1126A>C (p.Thr376Pro) rs376750978
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly) rs773130069
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp)
NM_001378454.1(ALMS1):c.11392A>G (p.Arg3798Gly)
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met)
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp)
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=) rs549156484
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg)
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066
NM_001378454.1(ALMS1):c.11662C>G (p.Gln3888Glu)
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg) rs776963509
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) rs3813227
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln)
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076
NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg)
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile) rs200568988
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val) rs368146962
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln) rs375923289
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp) rs200462734
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro) rs372910832
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp) rs1016477755
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu) rs763327026
NM_001378454.1(ALMS1):c.12131A>C (p.His4044Pro)
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His)
NM_001378454.1(ALMS1):c.12142T>A (p.Phe4048Ile)
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys) rs201874056
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)
NM_001378454.1(ALMS1):c.12152_12155delinsACAT (p.Arg4051_Ser4052delinsHisIle)
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His) rs878854996
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu) rs750502331
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1237+4A>G
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del)
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile)
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)
NM_001378454.1(ALMS1):c.1339-3A>C rs572922738
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys)
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly)
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=)
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn)
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377
NM_001378454.1(ALMS1):c.1520G>C (p.Gly507Ala) rs1553403257
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser)
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala)
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val) rs1451493287
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn)
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg)
NM_001378454.1(ALMS1):c.1761G>C (p.Gln587His) rs1553403313
NM_001378454.1(ALMS1):c.1816G>A (p.Gly606Arg)
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro)
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387
NM_001378454.1(ALMS1):c.1859C>G (p.Thr620Ser)
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala)
NM_001378454.1(ALMS1):c.1965G>A (p.Val655=) rs1553403345
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595
NM_001378454.1(ALMS1):c.199A>C (p.Ser67Arg)
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg)
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994
NM_001378454.1(ALMS1):c.2093_2107del (p.Val698_Ala702del)
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His)
NM_001378454.1(ALMS1):c.2121G>T (p.Gly707=) rs878854997
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu) rs905373886
NM_001378454.1(ALMS1):c.2207_2299del (p.Thr736_Gln766del)
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile)
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val)
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys)
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998
NM_001378454.1(ALMS1):c.2540A>G (p.Lys847Arg)
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)
NM_001378454.1(ALMS1):c.2592A>G (p.Gly864=) rs1553403535
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg)
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu)
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn)
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg)
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro)
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147
NM_001378454.1(ALMS1):c.2983A>G (p.Thr995Ala) rs776162820
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn)
NM_001378454.1(ALMS1):c.3067A>G (p.Thr1023Ala) rs1553403605
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp)
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr)
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro)
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)
NM_001378454.1(ALMS1):c.3266C>A (p.Thr1089Lys)
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val) rs1402063104
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596
NM_001378454.1(ALMS1):c.3292T>C (p.Ser1098Pro) rs1553403651
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile) rs1417754706
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn)
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp)
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His)
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412
NM_001378454.1(ALMS1):c.3734C>T (p.Pro1245Leu) rs1558648928
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly) rs773586990
NM_001378454.1(ALMS1):c.3799G>A (p.Val1267Ile) rs770278707
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu)
NM_001378454.1(ALMS1):c.3833C>T (p.Thr1278Ile)
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr)
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile)
NM_001378454.1(ALMS1):c.4022G>A (p.Gly1341Asp)
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser)
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val)
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala)
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr)
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln)
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile)
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr) rs183839621
NM_001378454.1(ALMS1):c.4565C>G (p.Ser1522Cys) rs1060500036
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys)
NM_001378454.1(ALMS1):c.4678A>G (p.Thr1560Ala) rs1558649606
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile)
NM_001378454.1(ALMS1):c.4976C>A (p.Pro1659Gln) rs199520788
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys)
NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val)
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser) rs764039432
NM_001378454.1(ALMS1):c.5129G>C (p.Ser1710Thr)
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly)
NM_001378454.1(ALMS1):c.5155A>G (p.Ile1719Val) rs1438158545
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His)
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr)
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile)
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys) rs761486372
NM_001378454.1(ALMS1):c.5272T>G (p.Phe1758Val)
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu) rs760251120
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His) rs747341054
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp)
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5390G>C (p.Gly1797Ala)
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr) rs1572936601
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu)
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg)
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp) rs777664567
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His)
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys)
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu)
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met) rs375838474
NM_001378454.1(ALMS1):c.5714T>G (p.Phe1905Cys) rs1553404125
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu)
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile)
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln)
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.5935G>A (p.Gly1979Arg)
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly) rs1553399974
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg) rs1047348249
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn)
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile)
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His) rs200041852
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys) rs758696535
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg) rs745919138
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr) rs377360750
NM_001378454.1(ALMS1):c.646+3A>G rs1553399994
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
NM_001378454.1(ALMS1):c.6529C>G (p.Gln2177Glu)
NM_001378454.1(ALMS1):c.6535A>G (p.Thr2179Ala)
NM_001378454.1(ALMS1):c.6538G>C (p.Gly2180Arg) rs145953016
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser)
NM_001378454.1(ALMS1):c.6628A>G (p.Asn2210Asp) rs780909821
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu) rs201737248
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro)
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala)
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser)
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896
NM_001378454.1(ALMS1):c.6831C>G (p.Cys2277Trp) rs761713440
NM_001378454.1(ALMS1):c.6838C>T (p.Pro2280Ser) rs1273490920
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile)
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg) rs1060500038
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu24_Glu25insLys) rs1006328829
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp)
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val) rs752336806
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys) rs1572938591
NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser) rs1553404408
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733
NM_001378454.1(ALMS1):c.7257C>T (p.Ala2419=)
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr) rs894421376
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545
NM_001378454.1(ALMS1):c.7412G>T (p.Gly2471Val)
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp)
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile) rs772752104
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg)
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met)
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val) rs1164499906
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu18_Glu28dup)
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg)
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702
NM_001378454.1(ALMS1):c.75_77del (p.Glu28del)
NM_001378454.1(ALMS1):c.7670C>T (p.Ser2557Phe) rs878855001
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg)
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr)
NM_001378454.1(ALMS1):c.7801C>T (p.Pro2601Ser) rs1553409608
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val)
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro)
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala)
NM_001378454.1(ALMS1):c.7948A>C (p.Ser2650Arg) rs567474729
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys) rs762452929
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792
NM_001378454.1(ALMS1):c.7994G>C (p.Ser2665Thr)
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu)
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071
NM_001378454.1(ALMS1):c.8156C>G (p.Ser2719Cys) rs1572969357
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu) rs878855002
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala)
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841
NM_001378454.1(ALMS1):c.8272C>A (p.Gln2758Lys) rs756042345
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr)
NM_001378454.1(ALMS1):c.8323A>G (p.Lys2775Glu) rs1572969570
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His)
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys)
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val) rs763332859
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro)
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly)
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln)
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile)
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val)
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu) rs537639125
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys)
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val)
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888
NM_001378454.1(ALMS1):c.8911A>G (p.Ser2971Gly)
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val)
NM_001378454.1(ALMS1):c.8983G>A (p.Val2995Met) rs1553409810
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn) rs753980616
NM_001378454.1(ALMS1):c.9008C>T (p.Pro3003Leu) rs755044727
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr) rs779131632
NM_001378454.1(ALMS1):c.9049A>G (p.Asn3017Asp) rs1572970420
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro)
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly)
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg)
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr)
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser) rs1434010689
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr)
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124
NM_001378454.1(ALMS1):c.9293C>A (p.Thr3098Asn) rs1553409866
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu) rs1558667813
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp) rs1558667820
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro) rs1572970696
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile)
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu) rs1486652095
NM_001378454.1(ALMS1):c.9433A>T (p.Ile3145Leu) rs767987000
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn)
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser)
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys)
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu)
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu)
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys)
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr)
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser)
NM_001378454.1(ALMS1):c.9772G>T (p.Gly3258Cys)
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu)
NM_001378454.1(ALMS1):c.9827T>A (p.Met3276Lys)
NM_001378454.1(ALMS1):c.9867G>A (p.Pro3289=) rs773900415
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn)
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr)
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173

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