List of variants reported as uncertain significance for age related macular degeneration 1

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 265

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HGVS	dbSNP
NM_031935.3(HMCN1):c.*18A>G	rs202061344
NM_031935.3(HMCN1):c.*223A>G
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.*418A>G
NM_031935.3(HMCN1):c.*588T>C
NM_031935.3(HMCN1):c.*669A>G
NM_031935.3(HMCN1):c.*689G>A
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.*982T>G	rs886045700
NM_031935.3(HMCN1):c.-121A>G
NM_031935.3(HMCN1):c.-151C>A	rs143020055
NM_031935.3(HMCN1):c.-156G>A	rs886045657
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.10230G>A (p.Val3410=)
NM_031935.3(HMCN1):c.10370G>A (p.Cys3457Tyr)	rs751358209
NM_031935.3(HMCN1):c.10942G>C (p.Val3648Leu)	rs886045679
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr)
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro)	rs141818688
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys)
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln)
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=)
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala)
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.11404+11G>A
NM_031935.3(HMCN1):c.11404+11G>T
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu)	rs199984579
NM_031935.3(HMCN1):c.11443G>A (p.Val3815Ile)
NM_031935.3(HMCN1):c.11531T>C (p.Leu3844Pro)
NM_031935.3(HMCN1):c.11640C>T (p.Asn3880=)
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg)
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.11905G>A (p.Ala3969Thr)	rs145955451
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val)	rs752692827
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.12047G>T (p.Ser4016Ile)
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.12149G>A (p.Arg4050Gln)
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.12320C>T (p.Pro4107Leu)
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val)	rs146177894
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=)
NM_031935.3(HMCN1):c.12455A>G (p.Asn4152Ser)
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala)	rs537694143
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala)
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys)
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=)
NM_031935.3(HMCN1):c.12763A>C (p.Thr4255Pro)
NM_031935.3(HMCN1):c.1285+7C>T	rs753115471
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.12936A>G (p.Glu4312=)
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp)	rs773577908
NM_031935.3(HMCN1):c.12965A>T (p.Asp4322Val)
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile)	rs200984902
NM_031935.3(HMCN1):c.13078A>T (p.Ile4360Phe)
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met)
NM_031935.3(HMCN1):c.13230+9C>T
NM_031935.3(HMCN1):c.13231-12T>G
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.13582+11T>C
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.13925-10G>C
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser)	rs367723447
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly)
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val)
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val)
NM_031935.3(HMCN1):c.14311C>T (p.Arg4771Trp)	rs768284133
NM_031935.3(HMCN1):c.14437+6C>T
NM_031935.3(HMCN1):c.14608+14T>G	rs150050864
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser)
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.14738C>A (p.Thr4913Asn)
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=)	rs764895427
NM_031935.3(HMCN1):c.14896+8T>A
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln)	rs201563661
NM_031935.3(HMCN1):c.15018+7T>A	rs886045687
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp)
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile)
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val)	rs754953588
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys)
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg)	rs373876634
NM_031935.3(HMCN1):c.15320-7C>T
NM_031935.3(HMCN1):c.15352T>A (p.Ser5118Thr)	rs886045688
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln)
NM_031935.3(HMCN1):c.15371C>T (p.Ala5124Val)
NM_031935.3(HMCN1):c.15421G>A (p.Asp5141Asn)	rs886045689
NM_031935.3(HMCN1):c.15440-9C>T
NM_031935.3(HMCN1):c.15460G>A (p.Gly5154Ser)	rs777284205
NM_031935.3(HMCN1):c.15551C>G (p.Thr5184Ser)	rs142062263
NM_031935.3(HMCN1):c.15601C>T (p.Pro5201Ser)
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His)	rs150188026
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val)
NM_031935.3(HMCN1):c.15689-7T>C	rs370901552
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.16002C>T (p.Pro5334=)	rs373461955
NM_031935.3(HMCN1):c.16021T>C (p.Cys5341Arg)	rs375692254
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg)	rs121434382
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.16460G>A (p.Arg5487His)
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn)
NM_031935.3(HMCN1):c.16573T>C (p.Leu5525=)	rs761197473
NM_031935.3(HMCN1):c.16602G>A (p.Leu5534=)
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.16741G>A (p.Ala5581Thr)
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.1751A>G (p.Asn584Ser)
NM_031935.3(HMCN1):c.1824G>T (p.Val608=)
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.2157C>T (p.Thr719=)	rs141371119
NM_031935.3(HMCN1):c.2359C>G (p.Leu787Val)	rs886045666
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.2670A>G (p.Pro890=)
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=)
NM_031935.3(HMCN1):c.2749A>C (p.Asn917His)	rs886045667
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln)
NM_031935.3(HMCN1):c.295G>A (p.Asp99Asn)
NM_031935.3(HMCN1):c.3048+12A>G	rs759007264
NM_031935.3(HMCN1):c.3172G>A (p.Gly1058Ser)
NM_031935.3(HMCN1):c.3245C>T (p.Ser1082Phe)
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=)
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu)	rs373402377
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val)
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.3437G>A (p.Gly1146Glu)
NM_031935.3(HMCN1):c.3520C>G (p.Gln1174Glu)
NM_031935.3(HMCN1):c.3524G>A (p.Arg1175His)	rs527332989
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala)
NM_031935.3(HMCN1):c.3684C>T (p.Ile1228=)	rs566865273
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.3999T>A (p.Asn1333Lys)
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=)	rs368008071
NM_031935.3(HMCN1):c.4090A>C (p.Lys1364Gln)
NM_031935.3(HMCN1):c.4181G>T (p.Trp1394Leu)
NM_031935.3(HMCN1):c.4200+6T>C
NM_031935.3(HMCN1):c.4212C>T (p.Ser1404=)
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro)	rs201953947
NM_031935.3(HMCN1):c.4348+11C>T
NM_031935.3(HMCN1):c.4352C>T (p.Pro1451Leu)	rs886045669
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser)
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.4440T>C (p.Thr1480=)	rs767657987
NM_031935.3(HMCN1):c.4446T>C (p.Phe1482=)	rs886045670
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.4511del (p.Leu1504fs)	rs1558137982
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser)
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His)	rs886045671
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=)
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn)	rs140480677
NM_031935.3(HMCN1):c.4896T>C (p.His1632=)
NM_031935.3(HMCN1):c.4910-14A>G	rs767012387
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile)	rs145758069
NM_031935.3(HMCN1):c.5300+7G>T
NM_031935.3(HMCN1):c.5327A>T (p.Asp1776Val)
NM_031935.3(HMCN1):c.5411G>A (p.Arg1804Gln)
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.5732T>C (p.Ile1911Thr)
NM_031935.3(HMCN1):c.5820G>T (p.Leu1940=)
NM_031935.3(HMCN1):c.5852-12T>G	rs373816059
NM_031935.3(HMCN1):c.5852-1G>A	rs886045673
NM_031935.3(HMCN1):c.5875C>T (p.Arg1959Cys)
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val)
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly)	rs182468717
NM_031935.3(HMCN1):c.6075T>C (p.Val2025=)	rs886045674
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys)
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=)
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr)	rs199945360
NM_031935.3(HMCN1):c.6249C>T (p.Cys2083=)
NM_031935.3(HMCN1):c.6296G>A (p.Arg2099Gln)
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=)
NM_031935.3(HMCN1):c.6309G>C (p.Pro2103=)
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.6564T>G (p.Asn2188Lys)
NM_031935.3(HMCN1):c.6701-4G>C
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=)
NM_031935.3(HMCN1):c.6897T>A (p.Pro2299=)
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.7078C>T (p.Arg2360Cys)
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.7345A>G (p.Met2449Val)
NM_031935.3(HMCN1):c.7426+15T>A
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile)
NM_031935.3(HMCN1):c.7615A>G (p.Asn2539Asp)
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn)
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala)
NM_031935.3(HMCN1):c.782G>A (p.Arg261His)	rs753817944
NM_031935.3(HMCN1):c.7929A>T (p.Arg2643Ser)
NM_031935.3(HMCN1):c.793+9T>C
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val)
NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg)
NM_031935.3(HMCN1):c.8033G>C (p.Gly2678Ala)	rs577435610
NM_031935.3(HMCN1):c.8139+7C>A
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe)
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=)	rs183725854
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=)
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser)	rs199920138
NM_031935.3(HMCN1):c.8391T>C (p.Leu2797=)
NM_031935.3(HMCN1):c.8485+14C>T	rs201345841
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu)	rs749154171
NM_031935.3(HMCN1):c.8600-14C>G
NM_031935.3(HMCN1):c.8618G>A (p.Gly2873Glu)
NM_031935.3(HMCN1):c.8652G>C (p.Val2884=)
NM_031935.3(HMCN1):c.8739G>T (p.Leu2913Phe)
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)	rs200871004
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter)	rs142475663
NM_031935.3(HMCN1):c.880G>A (p.Ala294Thr)	rs886045662
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met)	rs556443296
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.9223A>C (p.Thr3075Pro)
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr)	rs886045676
NM_031935.3(HMCN1):c.9446-10T>A
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=)	rs886045677
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln)	rs140296295
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp)
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.974G>A (p.Arg325Gln)
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro)	rs148265876
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met)

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