ClinVar Miner

List of variants in gene HMCN1 studied for Macular degeneration

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Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP
NM_031935.2(HMCN1):c.14609-6dupC rs759638529
NM_031935.2(HMCN1):c.4910-14_4910-13delAT rs200156765
NM_031935.3(HMCN1):c.*117dup rs397961020
NM_031935.3(HMCN1):c.*18A>G rs202061344
NM_031935.3(HMCN1):c.*234G>A rs564259144
NM_031935.3(HMCN1):c.*327C>A rs541810746
NM_031935.3(HMCN1):c.*396T>G rs886045694
NM_031935.3(HMCN1):c.*422A>C rs145533442
NM_031935.3(HMCN1):c.*656_*658TAA[3] rs886045695
NM_031935.3(HMCN1):c.*674C>T rs1056456
NM_031935.3(HMCN1):c.*768G>T rs560234419
NM_031935.3(HMCN1):c.*775_*778del rs201927661
NM_031935.3(HMCN1):c.*836dup rs146952459
NM_031935.3(HMCN1):c.*872C>T rs746238036
NM_031935.3(HMCN1):c.*884C>G rs753718697
NM_031935.3(HMCN1):c.*902G>C rs886045698
NM_031935.3(HMCN1):c.*927T>C rs886045699
NM_031935.3(HMCN1):c.*92A>G rs558737295
NM_031935.3(HMCN1):c.*937A>G rs41317509
NM_031935.3(HMCN1):c.*982T>G rs886045700
NM_031935.3(HMCN1):c.-13dup rs752517345
NM_031935.3(HMCN1):c.-151C>A rs143020055
NM_031935.3(HMCN1):c.-156G>A rs886045657
NM_031935.3(HMCN1):c.-25dup rs545770705
NM_031935.3(HMCN1):c.-40T>C rs886045659
NM_031935.3(HMCN1):c.-87T>C rs886045658
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln) rs369620574
NM_031935.3(HMCN1):c.1021+8T>C rs199547255
NM_031935.3(HMCN1):c.10370G>A (p.Cys3457Tyr) rs751358209
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=) rs72720910
NM_031935.3(HMCN1):c.10942G>C (p.Val3648Leu) rs886045679
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro) rs141818688
NM_031935.3(HMCN1):c.10989+5A>G rs200045422
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser) rs141099682
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile) rs773110395
NM_031935.3(HMCN1):c.11240G>C (p.Arg3747Thr) rs886045680
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile) rs199585281
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu) rs199984579
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) rs151284138
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158
NM_031935.3(HMCN1):c.11684-13G>A rs10157742
NM_031935.3(HMCN1):c.11687C>T (p.Pro3896Leu) rs761533889
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu) rs146636123
NM_031935.3(HMCN1):c.11849-8A>C rs78780269
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr) rs145955451
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val) rs752692827
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met) rs139870667
NM_031935.3(HMCN1):c.11953C>T (p.His3985Tyr) rs886045681
NM_031935.3(HMCN1):c.12003G>T (p.Leu4001=) rs752889177
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser) rs367750334
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp) rs146671871
NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser) rs144994573
NM_031935.3(HMCN1):c.12159T>G (p.Ala4053=) rs752738056
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=) rs147891898
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=) rs886045682
NM_031935.3(HMCN1):c.12230-7A>C rs2057388
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr) rs41317489
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val) rs146177894
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala) rs537694143
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met) rs147851396
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363
NM_031935.3(HMCN1):c.12850A>G (p.Thr4284Ala) rs886045683
NM_031935.3(HMCN1):c.12876A>G (p.Thr4292=) rs886045684
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=) rs144437187
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp) rs773577908
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile) rs200984902
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=) rs41317491
NM_031935.3(HMCN1):c.13040-3C>T rs41317493
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg) rs78541701
NM_031935.3(HMCN1):c.13231-4A>G rs191690433
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg) rs10911825
NM_031935.3(HMCN1):c.13313-4G>A rs41317497
NM_031935.3(HMCN1):c.13313-5C>T rs184095385
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) rs61732179
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=) rs763275429
NM_031935.3(HMCN1):c.13441T>A (p.Ser4481Thr) rs778062119
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr) rs747405345
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu) rs202140956
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln) rs145398864
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met) rs146247104
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser) rs367723447
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His) rs74136049
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=) rs3737942
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys) rs200897962
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069
NM_031935.3(HMCN1):c.14311C>T (p.Arg4771Trp) rs768284133
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg) rs147296385
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748
NM_031935.3(HMCN1):c.14608+14T>G rs150050864
NM_031935.3(HMCN1):c.14649T>G (p.Ile4883Met) rs886045686
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His) rs148097981
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys) rs139490011
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=) rs764895427
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln) rs201563661
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728
NM_031935.3(HMCN1):c.15018+7T>A rs886045687
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=) rs114051074
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val) rs754953588
NM_031935.3(HMCN1):c.15256+4A>T rs184102616
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val) rs41317507
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg) rs373876634
NM_031935.3(HMCN1):c.15352T>A (p.Ser5118Thr) rs886045688
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872
NM_031935.3(HMCN1):c.15421G>A (p.Asp5141Asn) rs886045689
NM_031935.3(HMCN1):c.15439+14dup rs759693498
NM_031935.3(HMCN1):c.15440-13C>T rs12034495
NM_031935.3(HMCN1):c.15460G>A (p.Gly5154Ser) rs777284205
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=) rs142456335
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=) rs16824983
NM_031935.3(HMCN1):c.15551C>G (p.Thr5184Ser) rs142062263
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln) rs75161007
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=) rs57832192
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=) rs538516291
NM_031935.3(HMCN1):c.1589C>T (p.Thr530Ile) rs189951644
NM_031935.3(HMCN1):c.16021T>C (p.Cys5341Arg) rs375692254
NM_031935.3(HMCN1):c.16032_16034ACA[1] (p.Gln5345del) rs780673178
NM_031935.3(HMCN1):c.16121G>A (p.Arg5374Gln) rs147189545
NM_031935.3(HMCN1):c.16295-9C>T rs760760319
NM_031935.3(HMCN1):c.16414+12T>C rs886045692
NM_031935.3(HMCN1):c.16573T>C (p.Leu5525=) rs761197473
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828
NM_031935.3(HMCN1):c.16627T>C (p.Phe5543Leu) rs886045693
NM_031935.3(HMCN1):c.16728G>A (p.Gln5576=) rs749265997
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala) rs771757920
NM_031935.3(HMCN1):c.16773G>A (p.Val5591=) rs145772673
NM_031935.3(HMCN1):c.16793G>A (p.Arg5598Gln) rs748032823
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu) rs372803002
NM_031935.3(HMCN1):c.1956C>T (p.Ile652=) rs766591582
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys) rs370251638
NM_031935.3(HMCN1):c.2086C>G (p.Leu696Val) rs886045663
NM_031935.3(HMCN1):c.2098+12C>A rs776336811
NM_031935.3(HMCN1):c.2099-11G>A rs886045664
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe) rs137903471
NM_031935.3(HMCN1):c.2126G>A (p.Ser709Asn) rs886045665
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys) rs34692227
NM_031935.3(HMCN1):c.2212+8T>G rs183165464
NM_031935.3(HMCN1):c.2359C>G (p.Leu787Val) rs886045666
NM_031935.3(HMCN1):c.2372-3C>T rs186546131
NM_031935.3(HMCN1):c.2385C>T (p.Phe795=) rs140778669
NM_031935.3(HMCN1):c.2436A>C (p.Leu812Phe) rs367914815
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=) rs35576281
NM_031935.3(HMCN1):c.2749A>C (p.Asn917His) rs886045667
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile) rs34460141
NM_031935.3(HMCN1):c.3048+12A>G rs759007264
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) rs7539719
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu) rs373402377
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His) rs370518238
NM_031935.3(HMCN1):c.3426T>C (p.Thr1142=) rs886045668
NM_031935.3(HMCN1):c.3524G>A (p.Arg1175His) rs527332989
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe) rs12239296
NM_031935.3(HMCN1):c.3684C>T (p.Ile1228=) rs566865273
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val) rs145595000
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met) rs201379680
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=) rs74134272
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=) rs368008071
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro) rs201953947
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=) rs12087462
NM_031935.3(HMCN1):c.4352C>T (p.Pro1451Leu) rs886045669
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser) rs376910631
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val) rs371177035
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile) rs58293393
NM_031935.3(HMCN1):c.4440T>C (p.Thr1480=) rs767657987
NM_031935.3(HMCN1):c.4446T>C (p.Phe1482=) rs886045670
NM_031935.3(HMCN1):c.4475+9C>A rs111694556
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn) rs762354666
NM_031935.3(HMCN1):c.4499A>G (p.Asn1500Ser) rs772105060
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu) rs146532107
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His) rs886045671
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn) rs140480677
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile) rs201176937
NM_031935.3(HMCN1):c.4857T>C (p.His1619=) rs6665753
NM_031935.3(HMCN1):c.4910-14A>G rs767012387
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile) rs145758069
NM_031935.3(HMCN1):c.498+15A>C rs565661847
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=) rs115874887
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919
NM_031935.3(HMCN1):c.5669T>C (p.Leu1890Ser) rs199971679
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=) rs769758485
NM_031935.3(HMCN1):c.57C>T (p.Ser19=) rs114170176
NM_031935.3(HMCN1):c.5851+10del rs375820274
NM_031935.3(HMCN1):c.5852-12T>G rs373816059
NM_031935.3(HMCN1):c.5852-1G>A rs886045673
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val) rs144649977
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His) rs147974906
NM_031935.3(HMCN1):c.6029-11G>T rs10911802
NM_031935.3(HMCN1):c.6029-4T>C rs10911803
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly) rs182468717
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594
NM_031935.3(HMCN1):c.6075T>C (p.Val2025=) rs886045674
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr) rs199945360
NM_031935.3(HMCN1):c.6435G>A (p.Leu2145=) rs747509922
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys) rs41317477
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr) rs149550536
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile) rs12067376
NM_031935.3(HMCN1):c.6996C>G (p.Pro2332=) rs767597600
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=) rs758248236
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met) rs201628935
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His) rs559595305
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile) rs530178194
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=) rs368757349
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr) rs12129650
NM_031935.3(HMCN1):c.7307T>C (p.Leu2436Pro) rs886045675
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp) rs376132541
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=) rs7522627
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser) rs116300191
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626
NM_031935.3(HMCN1):c.782G>A (p.Arg261His) rs753817944
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) rs60502467
NM_031935.3(HMCN1):c.8033G>C (p.Gly2678Ala) rs577435610
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=) rs143866315
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=) rs143271285
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=) rs77026548
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=) rs183725854
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser) rs199920138
NM_031935.3(HMCN1):c.8485+14C>T rs201345841
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu) rs749154171
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr) rs114135070
NM_031935.3(HMCN1):c.880G>A (p.Ala294Thr) rs886045662
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568
NM_031935.3(HMCN1):c.8885-7A>G rs6425017
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met) rs556443296
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu) rs574155244
NM_031935.3(HMCN1):c.9047-12A>G rs767424930
NM_031935.3(HMCN1):c.9057T>A (p.Thr3019=) rs745727347
NM_031935.3(HMCN1):c.9081A>G (p.Val3027=) rs573229310
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg) rs748058327
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr) rs886045676
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=) rs886045677
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=) rs61745374
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu) rs76432158
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln) rs140296295
NM_031935.3(HMCN1):c.9657T>G (p.Ser3219Arg) rs886045678
NM_031935.3(HMCN1):c.9685A>G (p.Met3229Val) rs779147330
NM_031935.3(HMCN1):c.9888-5C>T rs142970299
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro) rs148265876
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=) rs75687673

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