ClinVar Miner

List of variants in gene ALMS1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 241
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HGVS dbSNP
NC_000002.12:g.73424408_73424411del
NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) rs746923506
NM_015120.4(ALMS1):c.10145T>G (p.Ile3382Ser) rs1558693233
NM_015120.4(ALMS1):c.10149dup (p.Ser3384fs) rs1553416872
NM_015120.4(ALMS1):c.10172C>T (p.Ala3391Val) rs905527689
NM_015120.4(ALMS1):c.10212T>A (p.Thr3404=) rs34617744
NM_015120.4(ALMS1):c.10216+22C>T
NM_015120.4(ALMS1):c.10217-214G>A
NM_015120.4(ALMS1):c.10221C>T (p.Ser3407=)
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.10357A>G (p.Asn3453Asp) rs573748379
NM_015120.4(ALMS1):c.1035A>G (p.Ser345=)
NM_015120.4(ALMS1):c.10388-239C>A
NM_015120.4(ALMS1):c.10465G>C (p.Val3489Leu) rs1057523167
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.10775del (p.Thr3592fs) rs387906312
NM_015120.4(ALMS1):c.10777A>G (p.Thr3593Ala) rs200467041
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.10895G>A (p.Arg3632His) rs142558799
NM_015120.4(ALMS1):c.11020C>A (p.Leu3674Ile) rs549757247
NM_015120.4(ALMS1):c.11057G>A (p.Ser3686Asn) rs11896293
NM_015120.4(ALMS1):c.11086del (p.Ser3696fs) rs1412574975
NM_015120.4(ALMS1):c.11116_11134del (p.Arg3706fs) rs398122992
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11207C>T (p.Ser3736Leu) rs367877017
NM_015120.4(ALMS1):c.11258A>G (p.Asn3753Ser) rs199917289
NM_015120.4(ALMS1):c.11269G>A (p.Gly3757Ser) rs34927702
NM_015120.4(ALMS1):c.11311_11312del (p.Thr3770_Asp3771insTer) rs1553418578
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.11395_11396AG[1] (p.Arg3799fs) rs1553418598
NM_015120.4(ALMS1):c.11414G>C (p.Arg3805Thr) rs201028172
NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter) rs940576720
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=)
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11587T>C (p.Ser3863Pro) rs202227966
NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) rs142278066
NM_015120.4(ALMS1):c.11670A>G (p.Ala3890=) rs767848384
NM_015120.4(ALMS1):c.11671+119A>G
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
NM_015120.4(ALMS1):c.11767A>G (p.Asn3923Asp) rs45486496
NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) rs199874928
NM_015120.4(ALMS1):c.11775T>C (p.Asp3925=)
NM_015120.4(ALMS1):c.11873-2A>T rs786205527
NM_015120.4(ALMS1):c.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.11942C>T (p.Thr3981Ile) rs200568988
NM_015120.4(ALMS1):c.11994G>A (p.Trp3998Ter) rs1553421725
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.12039C>A (p.Asp4013Glu) rs370981817
NM_015120.4(ALMS1):c.12040G>A (p.Gly4014Ser) rs541576664
NM_015120.4(ALMS1):c.12111C>G (p.Thr4037=) rs767174517
NM_015120.4(ALMS1):c.12116A>G (p.Gln4039Arg) rs1057524132
NM_015120.4(ALMS1):c.12117+33G>A
NM_015120.4(ALMS1):c.12118-100C>T
NM_015120.4(ALMS1):c.1215dup (p.Lys406Ter) rs1553400785
NM_015120.4(ALMS1):c.12208C>T (p.Gln4070Ter) rs1558712413
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12254G>T (p.Arg4085Met) rs375314465
NM_015120.4(ALMS1):c.12278G>T (p.Arg4093Leu) rs748624161
NM_015120.4(ALMS1):c.12301+183C>T
NM_015120.4(ALMS1):c.12319_12335del (p.Lys4107fs) rs1558712932
NM_015120.4(ALMS1):c.12365+181G>A
NM_015120.4(ALMS1):c.12365+23A>T
NM_015120.4(ALMS1):c.12365+24C>T
NM_015120.4(ALMS1):c.12365+27A>G
NM_015120.4(ALMS1):c.12365+57C>T
NM_015120.4(ALMS1):c.12366-294A>C
NM_015120.4(ALMS1):c.12379C>T (p.Leu4127Phe) rs746923966
NM_015120.4(ALMS1):c.12392A>G (p.Gln4131Arg) rs371587051
NM_015120.4(ALMS1):c.1240+2T>C rs916056435
NM_015120.4(ALMS1):c.12428A>G (p.Tyr4143Cys) rs775032572
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.12465+205G>C
NM_015120.4(ALMS1):c.1250A>G (p.Gln417Arg) rs777072028
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.139G>A (p.Val47Met) rs1057524276
NM_015120.4(ALMS1):c.1432+2_1432+15del rs1203193062
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val) rs202111717
NM_015120.4(ALMS1):c.1637C>T (p.Thr546Ile) rs772068213
NM_015120.4(ALMS1):c.1674del (p.Pro559fs) rs786205633
NM_015120.4(ALMS1):c.1727_1728delinsCTAGT (p.His576delinsProSer) rs1064795650
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.1776C>T (p.Asp592=)
NM_015120.4(ALMS1):c.1794_1801dup (p.Lys601delinsArgLeuTer) rs398122991
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.1870T>C (p.Ser624Pro) rs767987501
NM_015120.4(ALMS1):c.1900C>T (p.Gln634Ter) rs398122995
NM_015120.4(ALMS1):c.1902A>G (p.Gln634=) rs116033693
NM_015120.4(ALMS1):c.1977G>A (p.Lys659=)
NM_015120.4(ALMS1):c.1979C>T (p.Thr660Met) rs199682595
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.2097G>A (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2137_2138CT[2] (p.Ser714fs) rs387906313
NM_015120.4(ALMS1):c.2187A>G (p.Gln729=) rs572605877
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.2489A>G (p.His830Arg) rs370830603
NM_015120.4(ALMS1):c.2518G>A (p.Ala840Thr) rs1356972872
NM_015120.4(ALMS1):c.2538C>G (p.Asp846Glu) rs77517267
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.2664A>G (p.Val888=) rs76266696
NM_015120.4(ALMS1):c.2686_2688del (p.Asp896del) rs763288832
NM_015120.4(ALMS1):c.269C>T (p.Pro90Leu) rs989191437
NM_015120.4(ALMS1):c.2729C>G (p.Ser910Ter) rs746640196
NM_015120.4(ALMS1):c.283C>T (p.Pro95Ser)
NM_015120.4(ALMS1):c.2896T>C (p.Tyr966His) rs201180147
NM_015120.4(ALMS1):c.3050A>C (p.Glu1017Ala) rs1085307601
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.3106C>T (p.Pro1036Ser) rs531648685
NM_015120.4(ALMS1):c.3270A>G (p.Thr1090=)
NM_015120.4(ALMS1):c.3293A>G (p.Tyr1098Cys) rs201816596
NM_015120.4(ALMS1):c.3308A>C (p.Lys1103Thr) rs185586839
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3382C>T (p.Pro1128Ser) rs182127619
NM_015120.4(ALMS1):c.3423C>T (p.Thr1141=)
NM_015120.4(ALMS1):c.3435C>T (p.Tyr1145=) rs768929630
NM_015120.4(ALMS1):c.349G>A (p.Val117Ile) rs752342634
NM_015120.4(ALMS1):c.3571A>G (p.Thr1191Ala) rs772287164
NM_015120.4(ALMS1):c.3575del (p.Phe1192fs) rs1558648759
NM_015120.4(ALMS1):c.3577T>G (p.Tyr1193Asp) rs1553403697
NM_015120.4(ALMS1):c.357A>G (p.Gln119=) rs531782624
NM_015120.4(ALMS1):c.3692G>A (p.Gly1231Glu) rs372619046
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.3902C>A (p.Ser1301Ter) rs769219669
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4027G>A (p.Val1343Ile) rs751346260
NM_015120.4(ALMS1):c.4060C>A (p.Pro1354Thr) rs1005994594
NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) rs200491758
NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) rs115517108
NM_015120.4(ALMS1):c.4188G>A (p.Ser1396=)
NM_015120.4(ALMS1):c.4207A>G (p.Thr1403Ala) rs199649563
NM_015120.4(ALMS1):c.4292_4293CA[2] (p.His1432fs) rs398122993
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) rs78102263
NM_015120.4(ALMS1):c.4433C>T (p.Ser1478Leu) rs794727926
NM_015120.4(ALMS1):c.4451T>C (p.Ile1484Thr) rs370271775
NM_015120.4(ALMS1):c.4846T>G (p.Leu1616Val)
NM_015120.4(ALMS1):c.4859C>T (p.Ala1620Val) rs1085307684
NM_015120.4(ALMS1):c.4886A>G (p.Tyr1629Cys) rs375939859
NM_015120.4(ALMS1):c.4888C>T (p.Arg1630Trp) rs201874722
NM_015120.4(ALMS1):c.4965G>T (p.Lys1655Asn) rs28730853
NM_015120.4(ALMS1):c.5009G>T (p.Gly1670Val) rs267599447
NM_015120.4(ALMS1):c.5059G>C (p.Glu1687Gln) rs1553403999
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.520_524dup (p.Phe176fs) rs1553399962
NM_015120.4(ALMS1):c.5224G>C (p.Val1742Leu) rs962844498
NM_015120.4(ALMS1):c.5377_5378delinsAT (p.Ala1793Ile) rs1131691296
NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu) rs200266868
NM_015120.4(ALMS1):c.5659A>T (p.Thr1887Ser) rs886043799
NM_015120.4(ALMS1):c.5686T>A (p.Ser1896Thr) rs1288519568
NM_015120.4(ALMS1):c.5770G>C (p.Val1924Leu) rs772665115
NM_015120.4(ALMS1):c.5789G>A (p.Arg1930Gln) rs17009061
NM_015120.4(ALMS1):c.5830C>A (p.Arg1944Ser) rs370398704
NM_015120.4(ALMS1):c.5830C>T (p.Arg1944Cys) rs370398704
NM_015120.4(ALMS1):c.5926del (p.Glu1976fs) rs398122994
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6202C>G (p.Gln2068Glu) rs886042711
NM_015120.4(ALMS1):c.6214A>G (p.Ile2072Val)
NM_015120.4(ALMS1):c.6302A>T (p.Lys2101Ile) rs373286582
NM_015120.4(ALMS1):c.6364G>C (p.Val2122Leu) rs200368564
NM_015120.4(ALMS1):c.6445C>A (p.Pro2149Thr) rs377360750
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6527C>T (p.Ala2176Val) rs549259627
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6710C>T (p.Pro2237Leu) rs201737248
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.6775del (p.Thr2259fs) rs1553404310
NM_015120.4(ALMS1):c.6830G>A (p.Arg2277Gln) rs200979896
NM_015120.4(ALMS1):c.6902T>C (p.Val2301Ala) rs1057523384
NM_015120.4(ALMS1):c.6963G>A (p.Gln2321=) rs794727925
NM_015120.4(ALMS1):c.7016C>A (p.Thr2339Lys) rs373004988
NM_015120.4(ALMS1):c.7016C>T (p.Thr2339Ile) rs373004988
NM_015120.4(ALMS1):c.7202G>A (p.Gly2401Glu) rs373985919
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.7291A>G (p.Ser2431Gly) rs539112266
NM_015120.4(ALMS1):c.72_73insAAG (p.Glu25_Glu26insLys) rs1006328829
NM_015120.4(ALMS1):c.7495G>A (p.Glu2499Lys) rs1057524023
NM_015120.4(ALMS1):c.7510G>T (p.Ala2504Ser) rs202060439
NM_015120.4(ALMS1):c.7529G>A (p.Arg2510Gln) rs551433143
NM_015120.4(ALMS1):c.7544-163A>G
NM_015120.4(ALMS1):c.7544-180G>C
NM_015120.4(ALMS1):c.7544-33T>C
NM_015120.4(ALMS1):c.760C>T (p.Pro254Ser) rs368153355
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.7657del (p.Arg2553fs) rs1553404662
NM_015120.4(ALMS1):c.7678-144C>G
NM_015120.4(ALMS1):c.7678-64A>T
NM_015120.4(ALMS1):c.7678-66A>T
NM_015120.4(ALMS1):c.7679G>A (p.Gly2560Asp) rs1248528012
NM_015120.4(ALMS1):c.767G>A (p.Arg256Lys) rs786205526
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.800G>A (p.Trp267Ter) rs1558639105
NM_015120.4(ALMS1):c.8114C>T (p.Ser2705Phe) rs761272792
NM_015120.4(ALMS1):c.8125A>C (p.Met2709Leu) rs371904071
NM_015120.4(ALMS1):c.816G>A (p.Ser272=) rs775482774
NM_015120.4(ALMS1):c.8171C>A (p.Ser2724Tyr) rs368409205
NM_015120.4(ALMS1):c.823A>C (p.Ser275Arg)
NM_015120.4(ALMS1):c.824G>A (p.Ser275Asn) rs767513098
NM_015120.4(ALMS1):c.8284C>G (p.Pro2762Ala) rs369650940
NM_015120.4(ALMS1):c.8309C>T (p.Ser2770Phe) rs1060500037
NM_015120.4(ALMS1):c.8362A>G (p.Ile2788Val) rs200075429
NM_015120.4(ALMS1):c.8414G>A (p.Arg2805His) rs201252809
NM_015120.4(ALMS1):c.8417dup (p.Gln2808fs) rs1057519133
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.8536A>G (p.Ile2846Val) rs1057524748
NM_015120.4(ALMS1):c.8647C>T (p.Leu2883Phe) rs373944325
NM_015120.4(ALMS1):c.8676C>A (p.Ser2892Arg) rs755823751
NM_015120.4(ALMS1):c.8739T>G (p.Asp2913Glu) rs189758049
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Ter) rs1553409778
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015120.4(ALMS1):c.8923C>T (p.Pro2975Ser) rs1043429291
NM_015120.4(ALMS1):c.9032T>C (p.Ile3011Thr) rs780894681
NM_015120.4(ALMS1):c.9053A>G (p.Asn3018Ser) rs768218725
NM_015120.4(ALMS1):c.9266A>G (p.His3089Arg) rs376083621
NM_015120.4(ALMS1):c.928C>T (p.Gln310Ter) rs1558639213
NM_015120.4(ALMS1):c.9380A>G (p.Gln3127Arg) rs1553409872
NM_015120.4(ALMS1):c.94_96GCG[3] (p.Ala35_Ala36del)
NM_015120.4(ALMS1):c.9543-259T>C
NM_015120.4(ALMS1):c.9592T>A (p.Ser3198Thr) rs369682692
NM_015120.4(ALMS1):c.9619A>G (p.Thr3207Ala) rs878853092
NM_015120.4(ALMS1):c.9715C>T (p.Arg3239Cys) rs201252375
NM_015120.4(ALMS1):c.9763A>C (p.Thr3255Pro) rs1553412796
NM_015120.4(ALMS1):c.9782-9C>T rs10199680
NM_015120.4(ALMS1):c.9785-70G>A
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.9883G>C (p.Asp3295His) rs200441305
NM_015120.4(ALMS1):c.9910+129T>G
NM_015120.4(ALMS1):c.9910+160A>G
NM_015120.4(ALMS1):c.9910+309G>A
NM_015120.4:c.11551-3T>C
NM_015120.4:c.12365+18A>T

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