ClinVar Miner

List of variants in gene ALMS1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 248
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HGVS dbSNP
NM_015120.4(ALMS1):c.-21C>T rs530120421
NM_015120.4(ALMS1):c.-27_-25dupCTC rs746980000
NM_015120.4(ALMS1):c.-45C>G rs539250179
NM_015120.4(ALMS1):c.10082-11C>T rs368250605
NM_015120.4(ALMS1):c.10212T>A (p.Thr3404=) rs34617744
NM_015120.4(ALMS1):c.10216+12G>A rs527508238
NM_015120.4(ALMS1):c.10216+7A>G rs1553416882
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=) rs78108069
NM_015120.4(ALMS1):c.10357A>G (p.Asn3453Asp) rs573748379
NM_015120.4(ALMS1):c.103_108dupGCGGCG (p.Ala36_Asn37insAlaAla) rs746896173
NM_015120.4(ALMS1):c.10465G>T (p.Val3489Leu) rs1057523167
NM_015120.4(ALMS1):c.10467A>G (p.Val3489=) rs28730858
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.10895G>A (p.Arg3632His) rs142558799
NM_015120.4(ALMS1):c.11035C>T (p.Arg3679Trp) rs766771102
NM_015120.4(ALMS1):c.11057G>A (p.Ser3686Asn) rs11896293
NM_015120.4(ALMS1):c.11076G>A (p.Glu3692=) rs1421582809
NM_015120.4(ALMS1):c.11146A>G (p.Lys3716Glu) rs765505349
NM_015120.4(ALMS1):c.11226G>A (p.Glu3742=) rs28730859
NM_015120.4(ALMS1):c.11269G>A (p.Gly3757Ser) rs34927702
NM_015120.4(ALMS1):c.1126A>T (p.Ile376Leu) rs886038611
NM_015120.4(ALMS1):c.11319G>T (p.Glu3773Asp)
NM_015120.4(ALMS1):c.11331C>T (p.His3777=) rs45596541
NM_015120.4(ALMS1):c.11382T>C (p.Ala3794=) rs377090880
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=) rs35760114
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.1164T>C (p.His388=) rs191091347
NM_015120.4(ALMS1):c.11663T>C (p.Ile3888Thr) rs45630562
NM_015120.4(ALMS1):c.11699A>G (p.Lys3900Arg) rs1347288383
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
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.1177C>T (p.Arg393Cys) rs3813227
NM_015120.4(ALMS1):c.11801G>A (p.Arg3934His) rs45576434
NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) rs61741524
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.11871T>C (p.His3957=) rs370489767
NM_015120.4(ALMS1):c.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.11876-12T>C rs1320374
NM_015120.4(ALMS1):c.1200A>G (p.Thr400=) rs756136557
NM_015120.4(ALMS1):c.12047G>A (p.Gly4016Asp) rs200462734
NM_015120.4(ALMS1):c.12079A>G (p.Arg4027Gly)
NM_015120.4(ALMS1):c.12092G>A (p.Arg4031Lys) rs1052161
NM_015120.4(ALMS1):c.12117+14G>T rs1057524070
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.12178C>T (p.Leu4060=) rs1052162
NM_015120.4(ALMS1):c.12230G>A (p.Arg4077Gln) rs200814417
NM_015120.4(ALMS1):c.12288G>T (p.Pro4096=)
NM_015120.4(ALMS1):c.12301+5G>A rs371853987
NM_015120.4(ALMS1):c.12302-19C>T rs1553422031
NM_015120.4(ALMS1):c.12324C>T (p.Asn4108=) rs767420244
NM_015120.4(ALMS1):c.12365+16_12365+27delCAAGAGTACGTAinsTGAGTTTGTG rs1064795877
NM_015120.4(ALMS1):c.12365+16_12365+29delCAAGAGTACGTATAinsTGAGTTTGTGTG rs1064795814
NM_015120.4(ALMS1):c.12365+17_12365+27delAAGAGTACGTAinsGAGTTTGTG rs1064796118
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
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.1436-10_1436-9insCTT rs1064795386
NM_015120.4(ALMS1):c.1436-9_1436-8insCTT rs1064795791
NM_015120.4(ALMS1):c.1454G>A (p.Gly485Asp) rs374663067
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
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.1571_1572insTTC (p.Ser525_Pro526insSer) rs797045226
NM_015120.4(ALMS1):c.1577_1579delCTC (p.Pro526del) rs34628045
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
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.1870T>C (p.Ser624Pro) rs767987501
NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) rs41291187
NM_015120.4(ALMS1):c.1902A>G (p.Gln634=) rs116033693
NM_015120.4(ALMS1):c.2018T>G (p.Val673Gly) rs2037814
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.2068A>G (p.Thr690Ala) rs201804994
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2139C>T (p.Leu713=)
NM_015120.4(ALMS1):c.2193C>T (p.Phe731=) rs7598901
NM_015120.4(ALMS1):c.2194G>A (p.Ala732Thr) rs1337404560
NM_015120.4(ALMS1):c.2199C>T (p.Asp733=) rs754758293
NM_015120.4(ALMS1):c.2322G>A (p.Leu774=) rs28730851
NM_015120.4(ALMS1):c.2325C>T (p.Tyr775=) rs752503817
NM_015120.4(ALMS1):c.2357A>G (p.Glu786Gly) rs17848880
NM_015120.4(ALMS1):c.2416A>G (p.Thr806Ala) rs772260271
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.2538C>T (p.Asp846=) rs77517267
NM_015120.4(ALMS1):c.2539G>A (p.Gly847Arg) rs201154998
NM_015120.4(ALMS1):c.2661A>G (p.Lys887=) rs80133984
NM_015120.4(ALMS1):c.2664A>G (p.Val888=) rs76266696
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.2877C>T (p.Ser959=) rs541122374
NM_015120.4(ALMS1):c.3099C>A (p.Gly1033=) rs368659119
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.3269C>G (p.Thr1090Arg) rs556855697
NM_015120.4(ALMS1):c.327+21G>A rs11126399
NM_015120.4(ALMS1):c.3314G>A (p.Gly1105Asp) rs201074268
NM_015120.4(ALMS1):c.3322T>C (p.Tyr1108His) rs746162373
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.3594A>G (p.Lys1198=) rs773852068
NM_015120.4(ALMS1):c.3693G>A (p.Gly1231=) rs1057523614
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3870T>C (p.Tyr1290=) rs369314182
NM_015120.4(ALMS1):c.3897A>G (p.Gln1299=) rs112034360
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) rs200491758
NM_015120.4(ALMS1):c.4152A>G (p.Gln1384=) rs370508895
NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) rs115517108
NM_015120.4(ALMS1):c.4182A>G (p.Gln1394=) rs6546836
NM_015120.4(ALMS1):c.41_42insAGA (p.Glu29_Ala30insGlu) rs1553396124
NM_015120.4(ALMS1):c.4241G>C (p.Gly1414Ala) rs886038612
NM_015120.4(ALMS1):c.4247G>C (p.Gly1416Ala) rs6546837
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) rs144720929
NM_015120.4(ALMS1):c.474T>C (p.Cys158=) rs367648094
NM_015120.4(ALMS1):c.4768C>A (p.His1590Asn)
NM_015120.4(ALMS1):c.4827_4829delTGA (p.Asp1610del) rs1057518311
NM_015120.4(ALMS1):c.4860A>G (p.Ala1620=) rs367772965
NM_015120.4(ALMS1):c.48G>A (p.Glu16=)
NM_015120.4(ALMS1):c.4965G>T (p.Lys1655Asn) rs28730853
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.4992T>C (p.Thr1664=) rs774538998
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) rs75434052
NM_015120.4(ALMS1):c.5186A>G (p.Asp1729Gly) rs879255405
NM_015120.4(ALMS1):c.5248A>G (p.Thr1750Ala) rs546111188
NM_015120.4(ALMS1):c.5279A>G (p.Tyr1760Cys) rs200293447
NM_015120.4(ALMS1):c.5362A>G (p.Asn1788Asp) rs45608038
NM_015120.4(ALMS1):c.5436G>C (p.Lys1812Asn) rs78039319
NM_015120.4(ALMS1):c.5460G>A (p.Glu1820=) rs886038613
NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) rs62151609
NM_015120.4(ALMS1):c.5578A>G (p.Ile1860Val)
NM_015120.4(ALMS1):c.5605C>A (p.Leu1869Ile) rs1553404102
NM_015120.4(ALMS1):c.5623A>G (p.Lys1875Glu) rs886038614
NM_015120.4(ALMS1):c.5629A>G (p.Ile1877Val) rs6546838
NM_015120.4(ALMS1):c.5637T>C (p.Val1879=) rs1057524275
NM_015120.4(ALMS1):c.5789G>A (p.Arg1930Gln) rs17009061
NM_015120.4(ALMS1):c.5921C>A (p.Pro1974Gln)
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6074A>C (p.Lys2025Thr) rs369339997
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) rs149096794
NM_015120.4(ALMS1):c.60_77del18 (p.Glu24_Glu29del) rs55889738
NM_015120.4(ALMS1):c.6215T>C (p.Ile2072Thr) rs10496192
NM_015120.4(ALMS1):c.6302A>T (p.Lys2101Ile) rs373286582
NM_015120.4(ALMS1):c.6305C>G (p.Ser2102Trp) rs28730854
NM_015120.4(ALMS1):c.6305C>T (p.Ser2102Leu) rs28730854
NM_015120.4(ALMS1):c.6339T>A (p.Ser2113Arg) rs6724782
NM_015120.4(ALMS1):c.6382C>T (p.Pro2128Ser)
NM_015120.4(ALMS1):c.63_77delGGAGGAGGAGGAGGA (p.Glu25_Glu29del) rs55889738
NM_015120.4(ALMS1):c.63_77dup (p.Glu29_Ala30insGluGluGluGluGlu) rs55889738
NM_015120.4(ALMS1):c.6444A>G (p.Lys2148=) rs776254949
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
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.66_77delGGAGGAGGAGGA (p.Glu26_Glu29del) rs55889738
NM_015120.4(ALMS1):c.671C>A (p.Ser224Tyr) rs886038615
NM_015120.4(ALMS1):c.674C>A (p.Pro225His) rs11889925
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.6827A>G (p.Lys2276Arg) rs1057518307
NM_015120.4(ALMS1):c.6857G>C (p.Arg2286Pro) rs6546839
NM_015120.4(ALMS1):c.68_69insAGA (p.Glu29_Ala30insGlu) rs1553396148
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.72_77delGGAGGA (p.Glu28_Glu29del) rs55889738
NM_015120.4(ALMS1):c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu) rs55889738
NM_015120.4(ALMS1):c.7380C>T (p.Ser2460=) rs867561704
NM_015120.4(ALMS1):c.7444G>A (p.Ala2482Thr) rs760068474
NM_015120.4(ALMS1):c.7467A>G (p.Gln2489=) rs765766155
NM_015120.4(ALMS1):c.7562A>G (p.Asn2521Ser) rs377085127
NM_015120.4(ALMS1):c.75_77delGGA (p.Glu29del) rs55889738
NM_015120.4(ALMS1):c.75_77dupGGA (p.Glu29_Ala30insGlu) rs55889738
NM_015120.4(ALMS1):c.75_80delGGAAGA (p.Glu28_Glu29del) rs754175473
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.767+17G>T rs1057524596
NM_015120.4(ALMS1):c.767+18C>T rs1553400459
NM_015120.4(ALMS1):c.767+20T>A rs1881246
NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) rs750225944
NM_015120.4(ALMS1):c.7727G>A (p.Ser2576Asn) rs3820700
NM_015120.4(ALMS1):c.7746C>T (p.Ser2582=) rs370740871
NM_015120.4(ALMS1):c.7823C>G (p.Ala2608Gly) rs140223281
NM_015120.4(ALMS1):c.7929T>C (p.Val2643=) rs749406009
NM_015120.4(ALMS1):c.8020G>C (p.Asp2674His) rs2017116
NM_015120.4(ALMS1):c.80_88del (p.Glu27_Glu29del) rs797045229
NM_015120.4(ALMS1):c.8125A>G (p.Met2709Val) rs371904071
NM_015120.4(ALMS1):c.8214T>C (p.Thr2738=) rs759935089
NM_015120.4(ALMS1):c.8227T>G (p.Cys2743Gly) rs774945791
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
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.8414G>A (p.Arg2805His) rs201252809
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.8456C>T (p.Thr2819Ile) rs373211307
NM_015120.4(ALMS1):c.8484G>T (p.Arg2828Ser) rs2056486
NM_015120.4(ALMS1):c.8573A>G (p.Asn2858Ser) rs10193972
NM_015120.4(ALMS1):c.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.876T>G (p.Ser292Arg) rs747529881
NM_015120.4(ALMS1):c.8782C>A (p.Arg2928=) rs376244626
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015120.4(ALMS1):c.8840A>G (p.His2947Arg) rs574785830
NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) rs367862140
NM_015120.4(ALMS1):c.8893A>G (p.Ile2965Val) rs529506570
NM_015120.4(ALMS1):c.8907A>G (p.Gln2969=) rs777796888
NM_015120.4(ALMS1):c.8922G>A (p.Ala2974=) rs116854981
NM_015120.4(ALMS1):c.8983G>A (p.Val2995Ile) rs45566838
NM_015120.4(ALMS1):c.9076C>A (p.Pro3026Thr) rs773480197
NM_015120.4(ALMS1):c.9078A>G (p.Pro3026=)
NM_015120.4(ALMS1):c.9141T>C (p.Cys3047=) rs779818117
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.945T>C (p.Pro315=) rs886038618
NM_015120.4(ALMS1):c.9463A>T (p.Thr3155Ser) rs553507775
NM_015120.4(ALMS1):c.948T>C (p.Ser316=) rs183390773
NM_015120.4(ALMS1):c.9564C>T (p.Thr3188=) rs11884776
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.9642A>G (p.Leu3214=) rs566943393
NM_015120.4(ALMS1):c.9655A>T (p.Ile3219Phe)
NM_015120.4(ALMS1):c.9696G>A (p.Glu3232=) rs764518519
NM_015120.4(ALMS1):c.9744A>G (p.Ser3248=) rs370844317
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.9784+19A>G rs895296631
NM_015120.4(ALMS1):c.9784+19delA rs751238172
NM_015120.4(ALMS1):c.9785-19C>A rs777706370
NM_015120.4(ALMS1):c.9785-9C>T rs10199680
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
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.9889A>G (p.Thr3297Ala) rs58806616
NM_015120.4(ALMS1):c.9900C>T (p.Ser3300=) rs1217540541
NM_015120.4(ALMS1):c.9910+20C>T rs74730457
NM_015120.4(ALMS1):c.9911-12G>A rs376627151
NM_015120.4(ALMS1):c.9917A>G (p.Asn3306Ser) rs142022233

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