ClinVar Miner

List of variants reported as pathogenic for Alstrom syndrome by Invitae

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ClinVar version:
Total variants: 179
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HGVS dbSNP
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10292_10293insT (p.Ile3432fs)
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)
NM_001378454.1(ALMS1):c.10385-2A>G
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
NM_001378454.1(ALMS1):c.10676del (p.Val3559fs) rs1573030204
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter) rs193919339
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs)
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs)
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs) rs776599992
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs)
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs)
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11644_11645del (p.Met3882fs) rs1573052379
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs) rs1573053412
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs)
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs)
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs)
NM_001378454.1(ALMS1):c.11904_11908del (p.Val3968_Glu3969insTer)
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.11991G>A (p.Trp3997Ter) rs1553421725
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter)
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)
NM_001378454.1(ALMS1):c.149del (p.Ala50fs)
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter) rs1553403321
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs)
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)
NM_001378454.1(ALMS1):c.2218del (p.Thr741fs)
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs)
NM_001378454.1(ALMS1):c.2270del (p.Pro757fs) rs1572932377
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs)
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter) rs1254495717
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
NM_001378454.1(ALMS1):c.3012del (p.His1005fs)
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs)
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs)
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter) rs369314182
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter) rs969786171
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs)
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter) rs750136202
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter) rs769440001
NM_001378454.1(ALMS1):c.560dup (p.Ser189fs) rs1439541639
NM_001378454.1(ALMS1):c.5732del (p.Pro1911fs) rs763048583
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs)
NM_001378454.1(ALMS1):c.57_58insTAGGAG (p.Glu20Ter) rs1574423697
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs)
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
NM_001378454.1(ALMS1):c.6372del (p.Pro2125fs) rs1553404220
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs)
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs)
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer)
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs) rs1558651349
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter) rs1060500039
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7334dup (p.Asn2445fs)
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
NM_001378454.1(ALMS1):c.870del (p.Ser290fs)
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter) rs765908556
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs)
NM_001378454.1(ALMS1):c.9419_9420del (p.Gln3140fs) rs1558667882
NM_001378454.1(ALMS1):c.9430dup (p.Thr3144fs) rs878855003
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter) rs563393715
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs)
NM_001378454.1(ALMS1):c.9829_9832dup (p.Tyr3278fs) rs1573000963
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) rs768759374
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
Single allele

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