ClinVar Miner

List of variants studied for vitelliform macular dystrophy 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.3(BEST1):c.-221T>C rs972353 0.48222
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009 0.41922
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698 0.22214
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008 0.15775
NM_004183.3(BEST1):c.-329C>T rs972354 0.14911
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_002032.3(FTH1):c.*222C>T rs17156609 0.03454
NM_004183.4(BEST1):c.*133T>C rs1801621 0.03051
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390 0.02837
NM_002032.3(FTH1):c.*319G>A rs75281081 0.02107
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_002032.3(FTH1):c.*389A>G rs1801327 0.01102
NM_004183.3(BEST1):c.-428C>T rs77151527 0.00974
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_004183.3(BEST1):c.-373T>A rs117165769 0.00757
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800 0.00289
NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) rs186448909 0.00202
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_002032.3(FTH1):c.*396A>G rs565138844 0.00136
NM_002032.3(FTH1):c.*312A>G rs756884770 0.00098
NM_004183.3(BEST1):c.-536T>C rs137965157 0.00090
NM_004183.4(BEST1):c.482-15C>T rs201010315 0.00088
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) rs141071579 0.00073
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139 0.00047
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) rs148060787 0.00043
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) rs17854138 0.00039
NM_004183.4(BEST1):c.1143C>T (p.Asp381=) rs112199774 0.00029
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675 0.00022
NM_002032.3(FTH1):c.387+12A>G rs201120647 0.00019
NM_004183.4(BEST1):c.*45T>C rs201586629 0.00015
NM_004183.4(BEST1):c.*24C>T rs142482048 0.00009
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512 0.00006
NM_004183.4(BEST1):c.1064G>A (p.Arg355His) rs368356148 0.00005
NM_004183.3(BEST1):c.-121C>T rs562849665 0.00004
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp) rs757536535 0.00003
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr) rs765604572 0.00002
NM_004183.4(BEST1):c.954C>G (p.Ser318=) rs144231113 0.00002
NM_002032.3(FTH1):c.*336A>G rs1158112939 0.00001
NM_004183.3(BEST1):c.-125G>A rs886048424 0.00001
NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys) rs779855350 0.00001
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu) rs886048428 0.00001
NM_004183.4(BEST1):c.152+6G>T rs764420497 0.00001
NM_004183.4(BEST1):c.699A>G (p.Pro233=) rs760816505 0.00001
NM_004183.4(BEST1):c.813C>T (p.Leu271=) rs370397270 0.00001
NM_004183.4(BEST1):c.822C>T (p.Pro274=) rs759678509 0.00001
NM_004183.4(BEST1):c.-66G>T rs886048425
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu) rs751707411
NM_004183.4(BEST1):c.1157A>C (p.His386Pro) rs886048427
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly) rs757181644
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala) rs281865283
NM_004183.4(BEST1):c.229C>A (p.Pro77Thr) rs1941154059
NM_004183.4(BEST1):c.351G>A (p.Lys117=) rs886048426

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