ClinVar Miner

List of variants in gene ALMS1 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 524
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HGVS dbSNP
NC_000002.12:g.73424408_73424411del rs532044714
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=)
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)
NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met)
NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg) rs1347288383
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187
NM_001378454.1(ALMS1):c.2973G>T (p.Lys991Asn)
NM_001378454.1(ALMS1):c.36_38GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36_38GGA[21] (p.Glu21_Glu28dup)
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=)
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile) rs1553404102
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300
NM_001378454.1(ALMS1):c.66G>A (p.Glu22=)
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly)
NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val) rs371904071
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=)
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala)
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
NM_015120.4(ALMS1):c.-21C>T rs530120421
NM_015120.4(ALMS1):c.-27_-25delCTC rs746980000
NM_015120.4(ALMS1):c.-27_-25dupCTC rs746980000
NM_015120.4(ALMS1):c.-45C>G rs539250179
NM_015120.4(ALMS1):c.10023G>A (p.Arg3341=) rs746166271
NM_015120.4(ALMS1):c.10026A>G (p.Val3342=) rs770072519
NM_015120.4(ALMS1):c.10041C>T (p.Ser3347=) rs375436336
NM_015120.4(ALMS1):c.10078+10T>C rs752454047
NM_015120.4(ALMS1):c.10079-11C>T rs368250605
NM_015120.4(ALMS1):c.10079-19A>G rs935864365
NM_015120.4(ALMS1):c.10089A>G (p.Ser3363=) rs747033366
NM_015120.4(ALMS1):c.10140A>G (p.Gln3380=) rs756623131
NM_015120.4(ALMS1):c.10213+11T>C rs1553416883
NM_015120.4(ALMS1):c.10213+12G>A rs527508238
NM_015120.4(ALMS1):c.10213+17G>C rs1553416885
NM_015120.4(ALMS1):c.10213+7A>G rs1553416882
NM_015120.4(ALMS1):c.10214-19G>A rs763103896
NM_015120.4(ALMS1):c.10216+22C>T rs78983290
NM_015120.4(ALMS1):c.10217-214G>A rs147356858
NM_015120.4(ALMS1):c.10221C>T (p.Ser3407=) rs754938453
NM_015120.4(ALMS1):c.10224_10226TGC[6] (p.Ala3413dup) rs760731440
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10300A>G (p.Thr3434Ala) rs750493624
NM_015120.4(ALMS1):c.1035A>G (p.Ser345=) rs376519124
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.105G>C (p.Ala35=) rs1574423870
NM_015120.4(ALMS1):c.10614G>A (p.Lys3538=) rs1470146152
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10777A>C (p.Thr3593Pro) rs200467041
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.10861A>C (p.Arg3621=) rs201598829
NM_015120.4(ALMS1):c.10863G>A (p.Arg3621=) rs373682259
NM_015120.4(ALMS1):c.10869A>G (p.Glu3623=) rs377601961
NM_015120.4(ALMS1):c.10872G>C (p.Leu3624=) rs775336312
NM_015120.4(ALMS1):c.10971G>C (p.Gly3657=) rs1439789927
NM_015120.4(ALMS1):c.11073C>A (p.Gly3691=) rs371329585
NM_015120.4(ALMS1):c.11073C>T (p.Gly3691=) rs371329585
NM_015120.4(ALMS1):c.11076G>A (p.Glu3692=) rs1421582809
NM_015120.4(ALMS1):c.11148A>G (p.Lys3716=) rs1573030809
NM_015120.4(ALMS1):c.11226G>A (p.Glu3742=) rs28730859
NM_015120.4(ALMS1):c.1126A>T (p.Ile376Leu) rs886038611
NM_015120.4(ALMS1):c.11326C>T (p.Leu3776=) rs771595125
NM_015120.4(ALMS1):c.11328G>C (p.Leu3776=) rs1573031104
NM_015120.4(ALMS1):c.11331C>T (p.His3777=) rs45596541
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11382T>C (p.Ala3794=) rs377090880
NM_015120.4(ALMS1):c.11410C>T (p.Pro3804Ser) rs189032342
NM_015120.4(ALMS1):c.11460C>T (p.Tyr3820=) rs373397289
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=) rs750087396
NM_015120.4(ALMS1):c.11514A>G (p.Leu3838=) rs374164508
NM_015120.4(ALMS1):c.11547+12C>A rs755559102
NM_015120.4(ALMS1):c.11547+12C>T rs755559102
NM_015120.4(ALMS1):c.11547+13A>G rs753246208
NM_015120.4(ALMS1):c.11547+16T>C rs373935106
NM_015120.4(ALMS1):c.11547+7G>C rs1553418641
NM_015120.4(ALMS1):c.11548-19A>T rs760271173
NM_015120.4(ALMS1):c.11548-3T>C rs555547573
NM_015120.4(ALMS1):c.11577C>T (p.Asp3859=) rs561636004
NM_015120.4(ALMS1):c.11604C>T (p.Phe3868=) rs80009262
NM_015120.4(ALMS1):c.11613A>G (p.Ser3871=) rs188172095
NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) rs142278066
NM_015120.4(ALMS1):c.1164T>C (p.His388=) rs191091347
NM_015120.4(ALMS1):c.11668+12A>G rs1553421500
NM_015120.4(ALMS1):c.11669-17A>G rs762591261
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
NM_015120.4(ALMS1):c.11745C>T (p.Ser3915=) rs374909171
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.11751G>A (p.Glu3917=) rs373364340
NM_015120.4(ALMS1):c.11758T>C (p.Leu3920=) rs750372739
NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) rs199874928
NM_015120.4(ALMS1):c.11775T>C (p.Asp3925=) rs201924342
NM_015120.4(ALMS1):c.11781T>C (p.Thr3927=) rs368160921
NM_015120.4(ALMS1):c.11823C>G (p.Thr3941=) rs565546868
NM_015120.4(ALMS1):c.1182A>C (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.1182A>T (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.11870A>G (p.His3957Arg) rs553786370
NM_015120.4(ALMS1):c.11871T>C (p.His3957=) rs370489767
NM_015120.4(ALMS1):c.11872+12A>G rs193922691
NM_015120.4(ALMS1):c.11872+18G>A rs139647347
NM_015120.4(ALMS1):c.11872+7T>A rs763235048
NM_015120.4(ALMS1):c.11872+9C>G rs768886966
NM_015120.4(ALMS1):c.1191G>A (p.Gln397=) rs368655814
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val) rs201728850
NM_015120.4(ALMS1):c.12009G>A (p.Arg4003=) rs1573054242
NM_015120.4(ALMS1):c.1200A>G (p.Thr400=) rs756136557
NM_015120.4(ALMS1):c.12039C>T (p.Asp4013=) rs370981817
NM_015120.4(ALMS1):c.12079A>G (p.Arg4027Gly) rs754439156
NM_015120.4(ALMS1):c.12114+12T>C rs377393930
NM_015120.4(ALMS1):c.12114+14G>T rs1057524070
NM_015120.4(ALMS1):c.12114+19A>G rs760374917
NM_015120.4(ALMS1):c.12114+19A>T rs760374917
NM_015120.4(ALMS1):c.12117+33G>A rs28730864
NM_015120.4(ALMS1):c.12118-100C>T rs115841170
NM_015120.4(ALMS1):c.12129G>A (p.Gln4043=) rs763332177
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.12180G>T (p.Leu4060=) rs1573055527
NM_015120.4(ALMS1):c.12201G>A (p.Arg4067=) rs199603690
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12237A>G (p.Ala4079=) rs374508659
NM_015120.4(ALMS1):c.12288G>A (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12288G>T (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12298+14G>A rs755931726
NM_015120.4(ALMS1):c.12298+19C>T rs1553421935
NM_015120.4(ALMS1):c.12298+5G>A rs371853987
NM_015120.4(ALMS1):c.12298+7C>T rs1252100215
NM_015120.4(ALMS1):c.12298A>G (p.Arg4100Gly) rs1057524885
NM_015120.4(ALMS1):c.12299-19C>T rs1553422031
NM_015120.4(ALMS1):c.12299-9C>G rs1573056433
NM_015120.4(ALMS1):c.12324C>T (p.Asn4108=) rs767420244
NM_015120.4(ALMS1):c.12357G>A (p.Arg4119=) rs546745992
NM_015120.4(ALMS1):c.12362+16C>G rs1553422061
NM_015120.4(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG rs1064795877
NM_015120.4(ALMS1):c.12362+16_12362+29delinsTGAGTTTGTGTG rs1064795814
NM_015120.4(ALMS1):c.12362+17_12362+27delinsGAGTTTGTG rs1064796118
NM_015120.4(ALMS1):c.12362+18A>T rs535484933
NM_015120.4(ALMS1):c.12363-14G>A rs377374398
NM_015120.4(ALMS1):c.12365+181G>A rs141980244
NM_015120.4(ALMS1):c.12366-294A>C rs114257034
NM_015120.4(ALMS1):c.1237+10C>G rs1291450244
NM_015120.4(ALMS1):c.1237+14T>C rs1482335275
NM_015120.4(ALMS1):c.1237+8C>A rs771449454
NM_015120.4(ALMS1):c.1237+9C>G rs201471551
NM_015120.4(ALMS1):c.1237+9C>T rs201471551
NM_015120.4(ALMS1):c.1238-20A>G rs771811655
NM_015120.4(ALMS1):c.1238-9A>G rs372652836
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.12450C>T (p.Ala4150=) rs374020124
NM_015120.4(ALMS1):c.12462+10T>C rs748315200
NM_015120.4(ALMS1):c.12462+12C>T rs1553422680
NM_015120.4(ALMS1):c.12462+12_12462+18del rs1374364094
NM_015120.4(ALMS1):c.12462+19T>C rs1309452497
NM_015120.4(ALMS1):c.12463-4A>G rs755283383
NM_015120.4(ALMS1):c.12465+205G>C rs28730865
NM_015120.4(ALMS1):c.1248G>T (p.Leu416=) rs1553400953
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1275T>C (p.Ile425=) rs544932125
NM_015120.4(ALMS1):c.1338+11A>G rs1553400967
NM_015120.4(ALMS1):c.1338+18G>A rs369695595
NM_015120.4(ALMS1):c.1338+20T>A rs1466354765
NM_015120.4(ALMS1):c.1356G>A (p.Ser452=) rs370873335
NM_015120.4(ALMS1):c.1389G>A (p.Arg463=) rs749794703
NM_015120.4(ALMS1):c.1432+12A>G rs1553401640
NM_015120.4(ALMS1):c.1432+14G>A rs1204922039
NM_015120.4(ALMS1):c.1432+15G>A rs376610564
NM_015120.4(ALMS1):c.1432+16A>G rs1553401642
NM_015120.4(ALMS1):c.1432+7A>G rs1468328132
NM_015120.4(ALMS1):c.1433-12_1433-10dup rs1064795386
NM_015120.4(ALMS1):c.1433-9_1433-8insCTT rs1064795791
NM_015120.4(ALMS1):c.1440C>T (p.Asp480=) rs372610345
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1473A>G (p.Gln491=) rs769982352
NM_015120.4(ALMS1):c.1524A>C (p.Gly508=) rs760374410
NM_015120.4(ALMS1):c.1551C>G (p.Asp517Glu) rs202002052
NM_015120.4(ALMS1):c.1560G>A (p.Gln520=) rs764869245
NM_015120.4(ALMS1):c.1569A>G (p.Val523=) rs1411790516
NM_015120.4(ALMS1):c.1574_1576CTC[1] (p.Pro526del) rs34628045
NM_015120.4(ALMS1):c.1605T>G (p.Thr535=) rs757654976
NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val) rs202111717
NM_015120.4(ALMS1):c.1698T>C (p.Thr566=) rs368992526
NM_015120.4(ALMS1):c.1710A>G (p.Thr570=) rs752130351
NM_015120.4(ALMS1):c.1713A>C (p.Val571=) rs201095989
NM_015120.4(ALMS1):c.1734T>C (p.His578=) rs768761501
NM_015120.4(ALMS1):c.1737G>A (p.Arg579=) rs1027908105
NM_015120.4(ALMS1):c.1761G>A (p.Gln587=) rs377037998
NM_015120.4(ALMS1):c.1776C>T (p.Asp592=) rs369744185
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.1857C>T (p.Thr619=) rs1327400351
NM_015120.4(ALMS1):c.1868A>G (p.Tyr623Cys) rs193922693
NM_015120.4(ALMS1):c.1869C>T (p.Tyr623=) rs1474922476
NM_015120.4(ALMS1):c.1887T>C (p.Pro629=) rs373831151
NM_015120.4(ALMS1):c.1929C>T (p.Thr643=) rs745591025
NM_015120.4(ALMS1):c.1965A>G (p.Pro655=) rs1572931748
NM_015120.4(ALMS1):c.1977G>A (p.Lys659=) rs1572931765
NM_015120.4(ALMS1):c.1980G>A (p.Thr660=) rs201316401
NM_015120.4(ALMS1):c.1995A>G (p.Val665=) rs894774935
NM_015120.4(ALMS1):c.2025C>T (p.Asp675=) rs374151754
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.2052G>A (p.Leu684=) rs1572931934
NM_015120.4(ALMS1):c.2082G>C (p.Leu694=) rs1320005523
NM_015120.4(ALMS1):c.2097G>A (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2097G>T (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2106A>C (p.Pro702=) rs750362630
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2125A>G (p.Thr709Ala) rs571389435
NM_015120.4(ALMS1):c.2190G>A (p.Glu730=) rs536950181
NM_015120.4(ALMS1):c.2199C>T (p.Asp733=) rs754758293
NM_015120.4(ALMS1):c.2215G>A (p.Glu739Lys) rs1057524883
NM_015120.4(ALMS1):c.2325C>T (p.Tyr775=) rs752503817
NM_015120.4(ALMS1):c.237C>G (p.Ala79=) rs368947491
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.2439A>G (p.Ser813=) rs925267503
NM_015120.4(ALMS1):c.2475C>G (p.Ala825=) rs368270850
NM_015120.4(ALMS1):c.2484C>T (p.Asp828=) rs748371743
NM_015120.4(ALMS1):c.2496C>T (p.Pro832=) rs561060460
NM_015120.4(ALMS1):c.2505T>C (p.Ala835=) rs761599987
NM_015120.4(ALMS1):c.2520T>G (p.Ala840=) rs765949316
NM_015120.4(ALMS1):c.2538C>G (p.Asp846Glu) rs77517267
NM_015120.4(ALMS1):c.2661A>G (p.Lys887=) rs80133984
NM_015120.4(ALMS1):c.2668A>G (p.Ile890Val) rs377282102
NM_015120.4(ALMS1):c.2733C>T (p.His911=) rs189923349
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.2820A>G (p.Val940=) rs376517753
NM_015120.4(ALMS1):c.282C>G (p.Pro94=) rs770203539
NM_015120.4(ALMS1):c.282C>T (p.Pro94=) rs770203539
NM_015120.4(ALMS1):c.2877C>T (p.Ser959=) rs541122374
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.2964G>A (p.Leu988=) rs745503022
NM_015120.4(ALMS1):c.3005G>T (p.Gly1002Val) rs773630367
NM_015120.4(ALMS1):c.3012C>T (p.Phe1004=) rs1572933379
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
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.318C>T (p.Ser106=) rs754611450
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.324+10G>C rs778690416
NM_015120.4(ALMS1):c.324+12C>T rs1553396311
NM_015120.4(ALMS1):c.324+14G>A rs1553396313
NM_015120.4(ALMS1):c.324+16G>C rs1276086207
NM_015120.4(ALMS1):c.324+16G>T rs1276086207
NM_015120.4(ALMS1):c.324+18G>A rs1553396316
NM_015120.4(ALMS1):c.324+7C>G rs1230102179
NM_015120.4(ALMS1):c.3249A>G (p.Pro1083=) rs532389598
NM_015120.4(ALMS1):c.325-8A>G rs200740825
NM_015120.4(ALMS1):c.3269C>G (p.Thr1090Arg) rs556855697
NM_015120.4(ALMS1):c.3270A>G (p.Thr1090=) rs773260160
NM_015120.4(ALMS1):c.3308A>C (p.Lys1103Thr) rs185586839
NM_015120.4(ALMS1):c.3314G>A (p.Gly1105Asp) rs201074268
NM_015120.4(ALMS1):c.3327A>G (p.Gln1109=) rs780391682
NM_015120.4(ALMS1):c.3333C>T (p.Thr1111=) rs749570443
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3402G>A (p.Lys1134=) rs376683428
NM_015120.4(ALMS1):c.3423C>T (p.Thr1141=) rs1300610392
NM_015120.4(ALMS1):c.3467A>C (p.His1156Pro) rs553406974
NM_015120.4(ALMS1):c.348T>C (p.His116=) rs1572904510
NM_015120.4(ALMS1):c.3594A>G (p.Lys1198=) rs773852068
NM_015120.4(ALMS1):c.3692G>A (p.Gly1231Glu) rs372619046
NM_015120.4(ALMS1):c.3693G>A (p.Gly1231=) rs1057523614
NM_015120.4(ALMS1):c.36_38GGA[10] (p.Glu26_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[11] (p.Glu27_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[16] (p.Glu28_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[20] (p.Glu24_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[9] (p.Glu25_Glu29del) rs55889738
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3815C>A (p.Pro1272Gln) rs372563916
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.3870T>C (p.Tyr1290=) rs369314182
NM_015120.4(ALMS1):c.3882C>G (p.Pro1294=) rs758192739
NM_015120.4(ALMS1):c.3885C>T (p.Ser1295=) rs746658957
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.3948G>A (p.Ala1316=) rs201474138
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4074T>G (p.Ala1358=) rs1572934855
NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) rs200491758
NM_015120.4(ALMS1):c.4143T>C (p.Ser1381=) rs1362041238
NM_015120.4(ALMS1):c.4152A>G (p.Gln1384=) rs370508895
NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu) rs377354387
NM_015120.4(ALMS1):c.4188G>A (p.Ser1396=) rs758814503
NM_015120.4(ALMS1):c.41_42insAGA (p.Glu29dup) rs1553396124
NM_015120.4(ALMS1):c.4225G>A (p.Val1409Ile) rs200529564
NM_015120.4(ALMS1):c.4253G>A (p.Arg1418Gln) rs771362238
NM_015120.4(ALMS1):c.4278C>T (p.Pro1426=) rs775642753
NM_015120.4(ALMS1):c.4319A>C (p.Tyr1440Ser) rs201971114
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.4344T>C (p.His1448=) rs770081169
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.435G>A (p.Arg145=) rs772143925
NM_015120.4(ALMS1):c.4360T>C (p.Leu1454=) rs879109152
NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) rs78102263
NM_015120.4(ALMS1):c.4467G>A (p.Gln1489=) rs770845249
NM_015120.4(ALMS1):c.450+11T>C rs763724672
NM_015120.4(ALMS1):c.450+11T>G rs763724672
NM_015120.4(ALMS1):c.450+12G>A rs1553398856
NM_015120.4(ALMS1):c.450+19G>A rs1553398858
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.450+7C>A rs775200355
NM_015120.4(ALMS1):c.451-16T>C rs1553399953
NM_015120.4(ALMS1):c.451-19T>C rs768590349
NM_015120.4(ALMS1):c.451-20T>C rs762592063
NM_015120.4(ALMS1):c.451-5T>G rs774098604
NM_015120.4(ALMS1):c.4545C>T (p.Gly1515=) rs763511170
NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) rs144720929
NM_015120.4(ALMS1):c.4650A>G (p.Arg1550=) rs564445910
NM_015120.4(ALMS1):c.474T>C (p.Cys158=) rs367648094
NM_015120.4(ALMS1):c.4761A>G (p.Pro1587=) rs778600773
NM_015120.4(ALMS1):c.4764T>C (p.Asp1588=) rs747858041
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.48G>A (p.Glu16=) rs1558624512
NM_015120.4(ALMS1):c.4902A>G (p.Leu1634=) rs1060503816
NM_015120.4(ALMS1):c.4905C>T (p.Asp1635=) rs1553403951
NM_015120.4(ALMS1):c.4923G>A (p.Glu1641=) rs1572935943
NM_015120.4(ALMS1):c.4941T>G (p.Ala1647=) rs767547246
NM_015120.4(ALMS1):c.4992T>C (p.Thr1664=) rs774538998
NM_015120.4(ALMS1):c.4998C>T (p.Tyr1666=) rs762003836
NM_015120.4(ALMS1):c.5179C>T (p.Leu1727=) rs373864798
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5202A>G (p.Gln1734=) rs374143515
NM_015120.4(ALMS1):c.5248A>G (p.Thr1750Ala) rs546111188
NM_015120.4(ALMS1):c.5313G>A (p.Gln1771=) rs778267451
NM_015120.4(ALMS1):c.5331T>C (p.Ser1777=) rs745907642
NM_015120.4(ALMS1):c.5350C>T (p.Leu1784=) rs562434013
NM_015120.4(ALMS1):c.5355A>G (p.Lys1785=) rs1409359077
NM_015120.4(ALMS1):c.5358T>G (p.Val1786=) rs1420283861
NM_015120.4(ALMS1):c.5450A>G (p.Tyr1817Cys) rs780110659
NM_015120.4(ALMS1):c.5460G>A (p.Glu1820=) rs886038613
NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu) rs200266868
NM_015120.4(ALMS1):c.5499A>G (p.Arg1833=) rs1572936704
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.561C>T (p.Asp187=) rs370228166
NM_015120.4(ALMS1):c.5637T>C (p.Val1879=) rs1057524275
NM_015120.4(ALMS1):c.5676A>C (p.Ala1892=) rs1572936907
NM_015120.4(ALMS1):c.5676A>T (p.Ala1892=) rs1572936907
NM_015120.4(ALMS1):c.5783G>A (p.Gly1928Asp) rs886056304
NM_015120.4(ALMS1):c.5831G>A (p.Arg1944His) rs146669152
NM_015120.4(ALMS1):c.5921C>A (p.Pro1974Gln) rs199615641
NM_015120.4(ALMS1):c.594A>G (p.Gln198=) rs373438786
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6040G>T (p.Ala2014Ser) rs1057524884
NM_015120.4(ALMS1):c.604C>G (p.Gln202Glu) rs376989302
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) rs149096794
NM_015120.4(ALMS1):c.6148T>A (p.Ser2050Thr) rs17848882
NM_015120.4(ALMS1):c.614A>C (p.Glu205Ala) rs200054604
NM_015120.4(ALMS1):c.6219A>G (p.Leu2073=) rs754288227
NM_015120.4(ALMS1):c.6282T>C (p.Ser2094=) rs1572937640
NM_015120.4(ALMS1):c.6305C>G (p.Ser2102Trp) rs28730854
NM_015120.4(ALMS1):c.6306G>A (p.Ser2102=) rs555344566
NM_015120.4(ALMS1):c.6364G>C (p.Val2122Leu) rs200368564
NM_015120.4(ALMS1):c.63G>A (p.Glu21=) rs183407241
NM_015120.4(ALMS1):c.6444A>G (p.Lys2148=) rs776254949
NM_015120.4(ALMS1):c.646+10G>A rs1553399998
NM_015120.4(ALMS1):c.646+8C>G rs760012033
NM_015120.4(ALMS1):c.646+8C>T rs760012033
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.647-19_647-18insT rs1553400422
NM_015120.4(ALMS1):c.6498T>C (p.Ala2166=) rs189124891
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
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.66G>A (p.Glu22=) rs1004961829
NM_015120.4(ALMS1):c.671C>A (p.Ser224Tyr) rs886038615
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.6843T>G (p.Pro2281=) rs45580837
NM_015120.4(ALMS1):c.6969C>T (p.Phe2323=) rs370287018
NM_015120.4(ALMS1):c.6978A>G (p.Glu2326=) rs1455390186
NM_015120.4(ALMS1):c.69_77dup rs55889738
NM_015120.4(ALMS1):c.7008T>C (p.Asp2336=) rs781592497
NM_015120.4(ALMS1):c.7020G>A (p.Gln2340=) rs190319211
NM_015120.4(ALMS1):c.7023G>A (p.Thr2341=) rs760756852
NM_015120.4(ALMS1):c.7128A>G (p.Glu2376=) rs1043215081
NM_015120.4(ALMS1):c.7185G>A (p.Gly2395=) rs1572938646
NM_015120.4(ALMS1):c.720G>A (p.Ala240=) rs373972884
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.7284G>A (p.Ser2428=) rs200684911
NM_015120.4(ALMS1):c.7359C>T (p.Pro2453=) rs1290880090
NM_015120.4(ALMS1):c.7380C>T (p.Ser2460=) rs867561704
NM_015120.4(ALMS1):c.7467A>G (p.Gln2489=) rs765766155
NM_015120.4(ALMS1):c.7476C>T (p.Ser2492=) rs1572938980
NM_015120.4(ALMS1):c.7503C>T (p.Leu2501=) rs751719112
NM_015120.4(ALMS1):c.7540+11A>G rs1553404509
NM_015120.4(ALMS1):c.7540+14T>G rs533780922
NM_015120.4(ALMS1):c.7540+20C>A rs1410444926
NM_015120.4(ALMS1):c.7541-17G>C rs758134188
NM_015120.4(ALMS1):c.7541-19G>A rs1553404624
NM_015120.4(ALMS1):c.7541-8C>T rs1553404629
NM_015120.4(ALMS1):c.7544-180G>C rs17009070
NM_015120.4(ALMS1):c.7544-33T>C rs28730856
NM_015120.4(ALMS1):c.75G>A (p.Glu25=) rs1483677896
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.764+14T>C rs1553400457
NM_015120.4(ALMS1):c.764+17G>T rs1057524596
NM_015120.4(ALMS1):c.764+18C>T rs1553400459
NM_015120.4(ALMS1):c.764+19A>G rs1035974697
NM_015120.4(ALMS1):c.764+9A>T rs551013858
NM_015120.4(ALMS1):c.765-16A>G rs765256601
NM_015120.4(ALMS1):c.7653T>C (p.His2551=) rs756901095
NM_015120.4(ALMS1):c.7656A>T (p.Gly2552=) rs1553404658
NM_015120.4(ALMS1):c.7674+10A>G rs1553404676
NM_015120.4(ALMS1):c.7674+9G>T rs1046548369
NM_015120.4(ALMS1):c.7675-19G>A rs1399037677
NM_015120.4(ALMS1):c.7678-64A>T rs77286979
NM_015120.4(ALMS1):c.7678-66A>T rs75510346
NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) rs750225944
NM_015120.4(ALMS1):c.7722A>G (p.Val2574=) rs561565809
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.7823C>G (p.Ala2608Gly) rs140223281
NM_015120.4(ALMS1):c.7824T>C (p.Ala2608=) rs1034500469
NM_015120.4(ALMS1):c.786T>C (p.Ser262=) rs1572914265
NM_015120.4(ALMS1):c.7929T>C (p.Val2643=) rs749406009
NM_015120.4(ALMS1):c.7947A>G (p.Leu2649=) rs1407932856
NM_015120.4(ALMS1):c.7979C>G (p.Pro2660Arg) rs537509954
NM_015120.4(ALMS1):c.8034C>T (p.Asp2678=) rs754078506
NM_015120.4(ALMS1):c.80_88del (p.Glu27_Glu29del) rs797045229
NM_015120.4(ALMS1):c.8112G>A (p.Pro2704=) rs759983484
NM_015120.4(ALMS1):c.8145C>T (p.Ser2715=) rs1572969339
NM_015120.4(ALMS1):c.8163C>T (p.His2721=) rs992844961
NM_015120.4(ALMS1):c.8214T>C (p.Thr2738=) rs759935089
NM_015120.4(ALMS1):c.824G>A (p.Ser275Asn) rs767513098
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn) rs200718841
NM_015120.4(ALMS1):c.8271A>G (p.Glu2757=) rs886038616
NM_015120.4(ALMS1):c.8277A>G (p.Gln2759=) rs181226362
NM_015120.4(ALMS1):c.8382G>A (p.Arg2794=) rs559811855
NM_015120.4(ALMS1):c.8442A>G (p.Glu2814=) rs886038617
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8475C>T (p.Pro2825=) rs1467835066
NM_015120.4(ALMS1):c.84_87delinsA (p.Glu29del) rs1553396167
NM_015120.4(ALMS1):c.8580G>A (p.Ser2860=) rs199850691
NM_015120.4(ALMS1):c.861A>G (p.Ser287=) rs748158586
NM_015120.4(ALMS1):c.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8658A>G (p.Arg2886=) rs377249623
NM_015120.4(ALMS1):c.8724T>C (p.Ser2908=) rs1386201636
NM_015120.4(ALMS1):c.8733T>C (p.His2911=) rs374693631
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.8782C>A (p.Arg2928=) rs376244626
NM_015120.4(ALMS1):c.8814T>C (p.Tyr2938=) rs541559170
NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) rs367862140
NM_015120.4(ALMS1):c.8904A>G (p.Glu2968=) rs371736476
NM_015120.4(ALMS1):c.8921C>T (p.Ala2974Val) rs202110907
NM_015120.4(ALMS1):c.8922G>A (p.Ala2974=) rs116854981
NM_015120.4(ALMS1):c.8931A>G (p.Val2977=) rs373374154
NM_015120.4(ALMS1):c.8983G>A (p.Val2995Ile) rs45566838
NM_015120.4(ALMS1):c.900G>A (p.Pro300=) rs1296000408
NM_015120.4(ALMS1):c.9021C>T (p.His3007=) rs376757358
NM_015120.4(ALMS1):c.9115C>G (p.Pro3039Ala) rs370622410
NM_015120.4(ALMS1):c.9141T>C (p.Cys3047=) rs779818117
NM_015120.4(ALMS1):c.9183T>C (p.Asp3061=) rs1572970568
NM_015120.4(ALMS1):c.9255C>T (p.Asn3085=) rs1237573573
NM_015120.4(ALMS1):c.9279G>A (p.Ser3093=) rs1462656920
NM_015120.4(ALMS1):c.9307T>C (p.Leu3103=) rs537370242
NM_015120.4(ALMS1):c.9321T>G (p.Pro3107=) rs771679163
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.9384C>T (p.Val3128=) rs754743943
NM_015120.4(ALMS1):c.9387A>G (p.Val3129=) rs752453102
NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) rs200586877
NM_015120.4(ALMS1):c.9483G>A (p.Val3161=) rs752405413
NM_015120.4(ALMS1):c.948T>C (p.Ser316=) rs183390773
NM_015120.4(ALMS1):c.94_96GCG[3] (p.Ala35_Ala36del) rs746896173
NM_015120.4(ALMS1):c.94_96GCG[7] (p.Ala35_Ala36dup) rs746896173
NM_015120.4(ALMS1):c.9539+10A>G rs1553409904
NM_015120.4(ALMS1):c.9539+10_9539+12del rs1572970962
NM_015120.4(ALMS1):c.9539+13G>C rs369860432
NM_015120.4(ALMS1):c.9539+20C>T rs759559244
NM_015120.4(ALMS1):c.9540-16del rs765235024
NM_015120.4(ALMS1):c.9603A>C (p.Ala3201=) rs113808259
NM_015120.4(ALMS1):c.9615A>C (p.Ile3205=) rs755456619
NM_015120.4(ALMS1):c.9620C>T (p.Thr3207Ile) rs201624771
NM_015120.4(ALMS1):c.9636G>A (p.Lys3212=) rs373013570
NM_015120.4(ALMS1):c.9639C>T (p.Thr3213=) rs749283920
NM_015120.4(ALMS1):c.9642A>G (p.Leu3214=) rs566943393
NM_015120.4(ALMS1):c.9696G>A (p.Glu3232=) rs764518519
NM_015120.4(ALMS1):c.9711G>A (p.Lys3237=) rs574095166
NM_015120.4(ALMS1):c.9715C>T (p.Arg3239Cys) rs201252375
NM_015120.4(ALMS1):c.9770C>G (p.Ser3257Cys) rs200922218
NM_015120.4(ALMS1):c.9780A>C (p.Thr3260=) rs183325464
NM_015120.4(ALMS1):c.9781+11G>A rs970258030
NM_015120.4(ALMS1):c.9781+19A>C rs895296631
NM_015120.4(ALMS1):c.9781+19A>G rs895296631
NM_015120.4(ALMS1):c.9781+19del rs751238172
NM_015120.4(ALMS1):c.9782-18T>C rs995894081
NM_015120.4(ALMS1):c.9782-19C>A rs777706370
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
NM_015120.4(ALMS1):c.9837T>C (p.Tyr3279=) rs1573000972
NM_015120.4(ALMS1):c.9846A>G (p.Gln3282=) rs1573000980
NM_015120.4(ALMS1):c.9855A>G (p.Gln3285=) rs1558684497
NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) rs114687298
NM_015120.4(ALMS1):c.9870G>A (p.Pro3290=) rs773900415
NM_015120.4(ALMS1):c.9883G>C (p.Asp3295His) rs200441305
NM_015120.4(ALMS1):c.9888C>T (p.Thr3296=) rs1455531770
NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) rs58806616
NM_015120.4(ALMS1):c.9891C>T (p.Thr3297=) rs372451785
NM_015120.4(ALMS1):c.9900C>T (p.Ser3300=) rs1217540541
NM_015120.4(ALMS1):c.9907+14A>G rs1402624178
NM_015120.4(ALMS1):c.9907+17A>C rs772675597
NM_015120.4(ALMS1):c.9907+17A>G rs772675597
NM_015120.4(ALMS1):c.9907+20C>A rs74730457
NM_015120.4(ALMS1):c.9907+7T>G rs375870610
NM_015120.4(ALMS1):c.9908-12G>A rs376627151
NM_015120.4(ALMS1):c.9910+129T>G rs73947814
NM_015120.4(ALMS1):c.991C>T (p.Leu331=) rs187880759
NM_015120.4(ALMS1):c.999T>C (p.Ile333=) rs760947833

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