ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_031935.3(HMCN1):c.*422A>C rs145533442
NM_031935.3(HMCN1):c.*768G>T rs560234419
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp)
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val)
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.11797A>T (p.Asn3933Tyr)
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val)
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met) rs147851396
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363
NM_031935.3(HMCN1):c.13231-4A>G rs191690433
NM_031935.3(HMCN1):c.13313-5C>T rs184095385
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) rs61732179
NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys)
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) rs144621380
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.1480G>A (p.Glu494Lys) rs139490011
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.15256+4A>T rs184102616
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=) rs142456335
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His) rs147769095
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=)
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr)
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg) rs35856562
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys) rs34692227
NM_031935.3(HMCN1):c.2212+8T>G rs183165464
NM_031935.3(HMCN1):c.2372-3C>T rs186546131
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) rs76631922
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe)
NM_031935.3(HMCN1):c.4475+9C>A rs111694556
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) rs78613732
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile) rs201176937
NM_031935.3(HMCN1):c.498+15A>C rs565661847
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp)
NM_031935.3(HMCN1):c.5749+6G>A
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe)
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His) rs147974906
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn) rs114669703
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448
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.7494G>A (p.Thr2498=) rs148467349
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) rs60502467
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877
NM_031935.3(HMCN1):c.865G>A (p.Val289Met)
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500
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.9888-5C>T rs142970299

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.