ClinVar Miner

List of variants reported as uncertain significance for age related macular degeneration 14

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) rs145050210 0.00081
NM_001710.6(CFB):c.658+7T>C rs541260302 0.00049
NM_000063.6(C2):c.1413C>T (p.Asn471=) rs138221333 0.00041
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000063.6(C2):c.929A>G (p.Asn310Ser) rs144201432 0.00031
NM_000063.6(C2):c.73C>T (p.Pro25Ser) rs200095096 0.00029
NM_000063.6(C2):c.749C>G (p.Ser250Cys) rs150827255 0.00027
NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile) rs141200859 0.00026
NM_006329.4(FBLN5):c.799G>A (p.Gly267Ser) rs149396611 0.00026
NM_000063.6(C2):c.2080-8T>C rs201806170 0.00022
NM_000063.6(C2):c.*82C>T rs747202032 0.00016
NM_000063.6(C2):c.1716G>C (p.Lys572Asn) rs376278843 0.00016
NM_000063.6(C2):c.1169A>C (p.Asp390Ala) rs142088624 0.00014
NM_000063.6(C2):c.1613C>T (p.Ala538Val) rs140194348 0.00014
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_000063.6(C2):c.1902+5G>A rs201711512 0.00009
NM_000063.6(C2):c.2253C>T (p.Pro751=) rs771797450 0.00009
NM_000063.6(C2):c.1109C>T (p.Ala370Val) rs777200072 0.00007
NM_000063.6(C2):c.980A>G (p.Asn327Ser) rs766665783 0.00007
NM_000063.6(C2):c.442+15T>G rs776839411 0.00006
NM_000063.6(C2):c.*141C>T rs1026987640 0.00005
NM_000063.6(C2):c.-36G>A rs758966628 0.00005
NM_000063.6(C2):c.386G>A (p.Arg129His) rs367996721 0.00005
NM_000063.6(C2):c.1981G>A (p.Asp661Asn) rs374481091 0.00004
NM_000063.6(C2):c.245C>T (p.Ala82Val) rs547881286 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr) rs121434302 0.00004
NM_000063.6(C2):c.*286T>C rs948285998 0.00003
NM_001710.6(CFB):c.-3G>A rs755016493 0.00003
NM_000063.6(C2):c.849+59G>A rs764825466 0.00002
NM_000063.6(C2):c.988+5G>A rs780974763 0.00002
NM_006329.4(FBLN5):c.178G>C (p.Val60Leu) rs121434299 0.00002
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln) rs121434300 0.00002
NM_000063.6(C2):c.1082C>T (p.Thr361Met) rs61730574 0.00001
NM_000063.6(C2):c.283T>G (p.Phe95Val) rs201023669 0.00001
NM_000063.6(C2):c.819C>T (p.Phe273=) rs886360667 0.00001
NM_000063.5(C2):c.-37C>A rs776263411
NM_000063.6(C2):c.*120T>C rs886061294
NM_000063.6(C2):c.*183C>T rs567255004
NM_000063.6(C2):c.-21G>A rs764589447
NM_000063.6(C2):c.1066C>T (p.Leu356Phe) rs886061293
NM_000063.6(C2):c.109C>T (p.Leu37Phe) rs1310333522
NM_000063.6(C2):c.1239G>C (p.Val413=) rs751253087
NM_000063.6(C2):c.149C>T (p.Ser50Phe) rs1277611780
NM_000063.6(C2):c.1602T>C (p.Leu534=) rs767886405
NM_000063.6(C2):c.2201G>T (p.Arg734Leu) rs146067615
NM_000063.6(C2):c.313G>A (p.Gly105Arg) rs886061292
NM_000063.6(C2):c.337G>A (p.Val113Met) rs1769482101
NM_000063.6(C2):c.913C>T (p.Leu305Phe) rs1562601398
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu) rs121434303
NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser) rs121434301
NM_006329.4(FBLN5):c.371A>C (p.Gln124Pro)
NM_006329.4(FBLN5):c.506T>C (p.Ile169Thr) rs28939072

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