ClinVar Miner

List of variants in gene ALMS1 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
NM_015120.4(ALMS1):c.10046del (p.Pro3349fs) rs1553416233
NM_015120.4(ALMS1):c.10082-1G>C rs1361885101
NM_015120.4(ALMS1):c.10134dup (p.Gln3379fs) rs1553416867
NM_015120.4(ALMS1):c.10216+1G>A rs374681570
NM_015120.4(ALMS1):c.10290_10291del (p.Lys3431fs) rs1553417044
NM_015120.4(ALMS1):c.10387+1G>A rs766366221
NM_015120.4(ALMS1):c.10538_10539ins19 (p.?) rs1220975714
NM_015120.4(ALMS1):c.10547_10548insCA (p.Gln3517fs) rs1553418449
NM_015120.4(ALMS1):c.10549C>T (p.Gln3517Ter) rs375019820
NM_015120.4(ALMS1):c.10574_10575ins10 (p.?) rs1553418457
NM_015120.4(ALMS1):c.10796_10799TGAA[1] (p.Glu3601fs) rs1553418500
NM_015120.4(ALMS1):c.10816dup (p.Tyr3606fs) rs1553418505
NM_015120.4(ALMS1):c.10839dup (p.Arg3614fs) rs1553418512
NM_015120.4(ALMS1):c.10847del (p.Pro3616fs) rs1553418513
NM_015120.4(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_015120.4(ALMS1):c.11086del (p.Ser3696fs) rs1412574975
NM_015120.4(ALMS1):c.11550+1G>A rs1553418638
NM_015120.4(ALMS1):c.11619dup (p.Thr3874fs) rs1553421488
NM_015120.4(ALMS1):c.11670del (p.Gly3891fs) rs1553421496
NM_015120.4(ALMS1):c.11672-1G>A rs750737346
NM_015120.4(ALMS1):c.11703del (p.Lys3901fs) rs1553421626
NM_015120.4(ALMS1):c.11717_11720del (p.Val3906fs) rs932538480
NM_015120.4(ALMS1):c.11812dup (p.Met3938fs) rs757722767
NM_015120.4(ALMS1):c.11875+2T>A rs1553421657
NM_015120.4(ALMS1):c.1195dup (p.Trp399fs) rs1553400778
NM_015120.4(ALMS1):c.1199_1205del (p.Thr400fs) rs761292021
NM_015120.4(ALMS1):c.12078del (p.Arg4027fs) rs1553421739
NM_015120.4(ALMS1):c.12086_12089del (p.Leu4029fs) rs1553421741
NM_015120.4(ALMS1):c.12107_12108del (p.Ala4036fs) rs1553421752
NM_015120.4(ALMS1):c.12117+1G>T rs376719320
NM_015120.4(ALMS1):c.12178_12180delinsTT (p.Lys4061fs) rs1553421886
NM_015120.4(ALMS1):c.12302-1G>A rs1313101326
NM_015120.4(ALMS1):c.12305_12308del (p.Phe4102fs) rs1553422035
NM_015120.4(ALMS1):c.1230_1231AT[1] (p.Tyr411fs) rs764503373
NM_015120.4(ALMS1):c.1240+2T>C rs916056435
NM_015120.4(ALMS1):c.12465+1delG rs750907119
NM_015120.4(ALMS1):c.1250del (p.Gln417fs) rs1553400956
NM_015120.4(ALMS1):c.1432+2_1432+15del rs1203193062
NM_015120.4(ALMS1):c.1435+1G>T rs1553401634
NM_015120.4(ALMS1):c.1560del (p.Gln520fs) rs1553403262
NM_015120.4(ALMS1):c.1611_1612TC[1] (p.Leu538fs) rs1553403282
NM_015120.4(ALMS1):c.164T>A (p.Leu55Ter) rs755760721
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.191_192delinsC (p.Gln64fs) rs1553396238
NM_015120.4(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_015120.4(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_015120.4(ALMS1):c.2133_2137del (p.Val712fs) rs1553403401
NM_015120.4(ALMS1):c.2179dup (p.Tyr727fs) rs771459937
NM_015120.4(ALMS1):c.2224dup (p.Thr742fs) rs769291842
NM_015120.4(ALMS1):c.2296_2299del (p.Ser766fs) rs1457500348
NM_015120.4(ALMS1):c.2729_2730CA[1] (p.His911fs) rs1558648189
NM_015120.4(ALMS1):c.2755dup (p.Ser919fs) rs1230351650
NM_015120.4(ALMS1):c.2793dup (p.Ala932fs) rs1553403560
NM_015120.4(ALMS1):c.286C>T (p.Gln96Ter) rs750326619
NM_015120.4(ALMS1):c.287dup (p.His97fs) rs1553396293
NM_015120.4(ALMS1):c.299C>A (p.Ser100Ter) rs1553396296
NM_015120.4(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_015120.4(ALMS1):c.3044_3045delinsT (p.Gln1015fs) rs1553403598
NM_015120.4(ALMS1):c.328-1G>A rs764337753
NM_015120.4(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_015120.4(ALMS1):c.3340del (p.Glu1114fs) rs1553403656
NM_015120.4(ALMS1):c.3492_3501del (p.His1164fs) rs1553403685
NM_015120.4(ALMS1):c.3575del (p.Phe1192fs) rs1558648759
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015120.4(ALMS1):c.362_363del (p.Ile121fs) rs1553398842
NM_015120.4(ALMS1):c.3690_3691del (p.Gly1231fs) rs1296683633
NM_015120.4(ALMS1):c.3784G>T (p.Glu1262Ter) rs1085307054
NM_015120.4(ALMS1):c.3872_3873GA[2] (p.Lys1293fs) rs1553403762
NM_015120.4(ALMS1):c.4252del (p.Arg1418fs) rs1553403851
NM_015120.4(ALMS1):c.430C>T (p.Gln144Ter) rs150825781
NM_015120.4(ALMS1):c.4334del (p.Pro1445fs) rs1553403864
NM_015120.4(ALMS1):c.4350dup (p.Glu1451Ter) rs778728424
NM_015120.4(ALMS1):c.4428del (p.Ser1477fs) rs1553403882
NM_015120.4(ALMS1):c.4746C>G (p.Tyr1582Ter)
NM_015120.4(ALMS1):c.5013_5035del (p.Lys1671fs) rs1553403989
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5146A>T (p.Arg1716Ter) rs773513360
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.5199_5200del (p.Gln1734fs) rs1553404028
NM_015120.4(ALMS1):c.5418del (p.Tyr1807fs) rs1553404066
NM_015120.4(ALMS1):c.5465del (p.Pro1822fs) rs770264966
NM_015120.4(ALMS1):c.5625del (p.Ala1876fs) rs1057517445
NM_015120.4(ALMS1):c.5863del (p.Glu1955fs) rs1553404150
NM_015120.4(ALMS1):c.5889del (p.Glu1964fs) rs1553404156
NM_015120.4(ALMS1):c.5981_5982del (p.Lys1994fs) rs1553404180
NM_015120.4(ALMS1):c.6486_6489del (p.Thr2163fs) rs1553404252
NM_015120.4(ALMS1):c.649+2T>C
NM_015120.4(ALMS1):c.6573_6576dup (p.Gly2193fs) rs1553404277
NM_015120.4(ALMS1):c.6693del (p.Val2232fs) rs1553404305
NM_015120.4(ALMS1):c.6800T>A (p.Leu2267Ter) rs761071372
NM_015120.4(ALMS1):c.6840del (p.Pro2281fs) rs1553404337
NM_015120.4(ALMS1):c.6901del (p.Val2301fs) rs1553404358
NM_015120.4(ALMS1):c.6928dup (p.Thr2310fs) rs1553404368
NM_015120.4(ALMS1):c.6956_6959ACAG[1] (p.Arg2320fs) rs1553404377
NM_015120.4(ALMS1):c.698dup (p.Leu233fs) rs1553400437
NM_015120.4(ALMS1):c.712G>T (p.Glu238Ter) rs989080548
NM_015120.4(ALMS1):c.7229del (p.Thr2410fs) rs1553404423
NM_015120.4(ALMS1):c.7240dup (p.Ser2414fs) rs1553404426
NM_015120.4(ALMS1):c.7333_7334delinsATA (p.Leu2445fs) rs1553404457
NM_015120.4(ALMS1):c.7376_7379del (p.Asp2459fs) rs1370417967
NM_015120.4(ALMS1):c.7391_7395dup (p.Val2466fs) rs1553404473
NM_015120.4(ALMS1):c.7457del (p.Asn2486fs) rs1217507627
NM_015120.4(ALMS1):c.756_757insA (p.Ala253fs) rs748892226
NM_015120.4(ALMS1):c.7678-2A>G rs748477695
NM_015120.4(ALMS1):c.772del (p.Ile258fs) rs1553400675
NM_015120.4(ALMS1):c.7830del (p.Ser2611fs) rs1553409617
NM_015120.4(ALMS1):c.8001_8016dup (p.Phe2673fs) rs1553409656
NM_015120.4(ALMS1):c.806_808del (p.Ser269_Arg270delinsTer) rs758952057
NM_015120.4(ALMS1):c.8136del (p.Phe2712fs) rs1553409683
NM_015120.4(ALMS1):c.8144_8151del (p.Ser2715fs) rs1553409686
NM_015120.4(ALMS1):c.8155dup (p.Ser2719fs) rs1553409691
NM_015120.4(ALMS1):c.8352_8355del (p.Lys2784_Glu2785insTer) rs1553409710
NM_015120.4(ALMS1):c.8721dup (p.Ser2908fs) rs1553409764
NM_015120.4(ALMS1):c.8755_8758CTTC[1] (p.Pro2920fs) rs1553409774
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Ter) rs1553409778
NM_015120.4(ALMS1):c.9152_9153CT[1] (p.Cys3053fs) rs1553409851
NM_015120.4(ALMS1):c.928_929insT (p.Gln310fs) rs1553400709
NM_015120.4(ALMS1):c.9542+1G>T rs1553409901
NM_015120.4(ALMS1):c.9763_9764dup (p.Phe3256fs) rs1553412797
NM_015120.4(ALMS1):c.9818_9831del (p.Gly3273fs) rs1553414071
NM_015120.4(ALMS1):c.9900dup (p.Ser3301fs) rs754702823

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