ClinVar Miner

List of variants in gene HMCN1 reported as benign for Age related macular degeneration 1

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.11684-13G>A rs10157742 0.64202
NM_031935.3(HMCN1):c.8885-7A>G rs6425017 0.63553
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=) rs7522627 0.63057
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035 0.56453
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr) rs12129650 0.53397
NM_031935.3(HMCN1):c.12230-7A>C rs2057388 0.52362
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg) rs10911825 0.39391
NM_031935.3(HMCN1):c.4857T>C (p.His1619=) rs6665753 0.35166
NM_031935.3(HMCN1):c.*674C>T rs1056456 0.24195
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) rs7539719 0.16805
NM_031935.3(HMCN1):c.14266+17G>C rs17531405 0.12803
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val) rs41317507 0.08845
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069 0.06856
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=) rs61745374 0.04046
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=) rs35576281 0.03312
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=) rs77026548 0.03129
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile) rs34460141 0.03127
NM_031935.3(HMCN1):c.*937A>G rs41317509 0.02893
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile) rs58293393 0.02671
NM_031935.3(HMCN1):c.11849-8A>C rs78780269 0.02456
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=) rs74134272 0.02399
NM_031935.3(HMCN1):c.57C>T (p.Ser19=) rs114170176 0.01714
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile) rs12067376 0.01472
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=) rs3737942 0.01470
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=) rs12087462 0.01418
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=) rs41317491 0.01364
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=) rs72720910 0.01345
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg) rs78541701 0.01250
NM_031935.3(HMCN1):c.13313-4G>A rs41317497 0.01218
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=) rs16824983 0.01216
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe) rs12239296 0.01178
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr) rs149550536 0.01074
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_031935.3(HMCN1):c.7511C>A (p.Thr2504Lys) rs76748242 0.01024
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr) rs41317489 0.00992
NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp) rs74136012 0.00984
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=) rs57832192 0.00905
NM_031935.3(HMCN1):c.13040-3C>T rs41317493 0.00895
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=) rs75687673 0.00845
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888 0.00827
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=) rs115874887 0.00678
NM_031935.3(HMCN1):c.6029-11G>T rs10911802 0.00678
NM_031935.3(HMCN1):c.6029-4T>C rs10911803 0.00676
NM_031935.3(HMCN1):c.8757T>C (p.His2919=) rs148188970 0.00653
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln) rs75161007 0.00507
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr) rs114135070 0.00480
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His) rs74136049 0.00474
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=) rs114051074 0.00463
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00443
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser) rs116300191 0.00436
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=) rs143866315 0.00404
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met) rs139870667 0.00379
NM_031935.3(HMCN1):c.12571G>A (p.Val4191Ile) rs141096306 0.00371
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) rs151284138 0.00356
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn) rs74136061 0.00324
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00295
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00272
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00253
NM_031935.3(HMCN1):c.4475+9C>A rs111694556 0.00229
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) rs78613732 0.00210
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594 0.00191
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=) rs143271285 0.00156
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872 0.00101
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.2212+8T>G rs183165464 0.00095
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu) rs146532107 0.00091
NM_031935.3(HMCN1):c.5851+10del rs375820274 0.00091
NM_031935.3(HMCN1):c.15440-13C>T rs12034495 0.00081
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591 0.00070
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val) rs144649977 0.00057
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748 0.00033
NM_031935.3(HMCN1):c.10989+5A>G rs200045422 0.00029
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) rs76631922 0.00020
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877 0.00019
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) rs144621380 0.00006
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=) rs373603132 0.00002
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664 0.00001
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=) rs144437187
NM_031935.3(HMCN1):c.4910-14_4910-13del rs200156765

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