ClinVar Miner

List of variants in gene HMCN1 reported as likely benign for Macular degeneration

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Gene type:
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Total variants: 74
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HGVS dbSNP
NM_031935.3(HMCN1):c.*117dup rs397961020
NM_031935.3(HMCN1):c.*422A>C rs145533442
NM_031935.3(HMCN1):c.*674C>T rs1056456
NM_031935.3(HMCN1):c.*775_*778del rs201927661
NM_031935.3(HMCN1):c.*836dup rs146952459
NM_031935.3(HMCN1):c.*937A>G rs41317509
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=) rs72720910
NM_031935.3(HMCN1):c.10989+5A>G rs200045422
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.11849-8A>C rs78780269
NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser) rs144994573
NM_031935.3(HMCN1):c.12230-7A>C rs2057388
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr) rs41317489
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.12906C>T (p.Ala4302=) rs144437187
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244
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.13310A>G (p.Gln4437Arg) rs10911825
NM_031935.3(HMCN1):c.13313-4G>A rs41317497
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.14158G>A (p.Ala4720Thr) rs6693069
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg) rs147296385
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.15063C>T (p.Tyr5021=) rs114051074
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val) rs41317507
NM_031935.3(HMCN1):c.15440-13C>T rs12034495
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=) rs16824983
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.16121G>A (p.Arg5374Gln) rs147189545
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=) rs35576281
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile) rs34460141
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) rs7539719
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe) rs12239296
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=) rs74134272
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=) rs12087462
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile) rs58293393
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu) rs146532107
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471
NM_031935.3(HMCN1):c.4857T>C (p.His1619=) rs6665753
NM_031935.3(HMCN1):c.4910-14_4910-13del rs200156765
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=) rs115874887
NM_031935.3(HMCN1):c.57C>T (p.Ser19=) rs114170176
NM_031935.3(HMCN1):c.5851+10del rs375820274
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val) rs144649977
NM_031935.3(HMCN1):c.6029-11G>T rs10911802
NM_031935.3(HMCN1):c.6029-4T>C rs10911803
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.7253T>C (p.Ile2418Thr) rs12129650
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.7652T>C (p.Leu2551Ser) rs116300191
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626
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.8678A>G (p.Glu2893Gly) rs10798035
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr) rs114135070
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568
NM_031935.3(HMCN1):c.8885-7A>G rs6425017
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=) rs61745374
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=) rs75687673

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