ClinVar Miner

List of variants reported as likely benign for age related macular degeneration 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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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

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