ClinVar Miner

List of variants reported as likely benign for age related macular degeneration 1 by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00555
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471 0.00550
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val) rs114270813 0.00309
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) rs60502467 0.00295
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn) rs114669703 0.00259
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp) rs41317483 0.00239
NM_031935.3(HMCN1):c.15256+4A>T rs184102616 0.00225
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg) rs35856562 0.00193
NM_031935.3(HMCN1):c.2372-3C>T rs186546131 0.00139
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys) rs139490011 0.00113
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=) rs142456335 0.00112
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp) rs147995526 0.00111
NM_031935.3(HMCN1):c.865G>A (p.Val289Met) rs144384070 0.00108
NM_031935.3(HMCN1):c.13231-4A>G rs191690433 0.00081
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) rs61732179 0.00076
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val) rs150618921 0.00061
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His) rs147769095 0.00060
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) rs150734874 0.00056
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr) rs143665535 0.00048
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys) rs34692227 0.00046
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe) rs140559544 0.00046
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500 0.00044
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met) rs201628935 0.00033
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg) rs147296385 0.00029
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met) rs147851396 0.00026
NM_031935.3(HMCN1):c.9888-5C>T rs142970299 0.00016
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe) rs188107197 0.00014
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu) rs76432158 0.00014
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His) rs147974906 0.00011
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=) rs368757349 0.00011
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile) rs201176937 0.00008
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr) rs184081240 0.00007
NM_031935.3(HMCN1):c.498+15A>C rs565661847 0.00004
NM_031935.3(HMCN1):c.5749+6G>A rs575776317 0.00004
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His) rs559595305 0.00003
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664 0.00001
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile) rs530178194 0.00001
NM_031935.3(HMCN1):c.14266+19_14266+22del rs770465309
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017
NM_031935.3(HMCN1):c.7426+8T>C
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)

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