ClinVar Miner

List of variants studied for Alstrom syndrome by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 214
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=) rs375436336
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys)
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348
NM_001378454.1(ALMS1):c.10671A>C (p.Lys3557Asn)
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267
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.11054G>A (p.Ser3685Asn) rs11896293
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) rs771595125
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys)
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp) rs45486496
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850
NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg)
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489
NM_001378454.1(ALMS1):c.12115-2A>T
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu) rs763327026
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val)
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val)
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr)
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630
NM_001378454.1(ALMS1):c.2119G>A (p.Gly707Arg)
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=) rs536950181
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
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.2661A>G (p.Val887=) rs76266696
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319
NM_001378454.1(ALMS1):c.2809G>C (p.Val937Leu)
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316
NM_001378454.1(ALMS1):c.2872A>T (p.Ser958Cys)
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598
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.331C>G (p.Pro111Ala) rs368354870
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.3493C>T (p.Pro1165Ser)
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=)
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp)
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775
NM_001378454.1(ALMS1):c.4476G>T (p.Glu1492Asp)
NM_001378454.1(ALMS1):c.451-5T>G rs774098604
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4643T>C (p.Leu1548Pro)
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) rs1057518311
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp)
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564
NM_001378454.1(ALMS1):c.646+8C>G rs760012033
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro)
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925
NM_001378454.1(ALMS1):c.6723T>C (p.Phe2241=)
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val)
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.6854G>C (p.Arg2285Pro) rs6546839
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg) rs1060500038
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg)
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys)
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700
NM_001378454.1(ALMS1):c.7755A>G (p.Gly2585=)
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val)
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser)
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg) rs537509954
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp)
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro)
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=)
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325
NM_001378454.1(ALMS1):c.8775A>G (p.Glu2925=)
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102
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.9538C>G (p.Arg3180Gly) rs563393715
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser)
NM_001378454.1(ALMS1):c.9782-1G>A
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg)

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