ClinVar Miner

List of variants reported as uncertain significance for vitelliform macular dystrophy 2

Included ClinVar conditions (3):
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002032.3(FTH1):c.*312A>G rs756884770 0.00098
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004183.4(BEST1):c.974T>C (p.Met325Thr) rs368387447 0.00006
NM_004183.3(BEST1):c.-121C>T rs562849665 0.00004
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
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.1532A>G (p.Lys511Arg) rs1199787091 0.00001
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly) rs748685592 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_000322.5(PRPH2):c.620A>G (p.Asp207Gly) rs1800116925
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.974_977del (p.Lys325fs) rs1799985503
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.200T>C (p.Leu67Pro)
NM_004183.4(BEST1):c.229C>A (p.Pro77Thr) rs1941154059
NM_004183.4(BEST1):c.313C>G (p.Arg105Gly) rs281865273
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.351G>A (p.Lys117=) rs886048426
NM_004183.4(BEST1):c.35C>G (p.Ala12Gly) rs1940692591
NM_004183.4(BEST1):c.362G>C (p.Gly121Ala)
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del) rs775979290
NM_004183.4(BEST1):c.544T>C (p.Trp182Arg) rs1565390925
NM_004183.4(BEST1):c.811C>A (p.Leu271Ile) rs1308281595
NM_004183.4(BEST1):c.828C>G (p.Phe276Leu) rs281865248
NM_004183.4(BEST1):c.968A>T (p.Asp323Val) rs752756768
NM_004183.4(BEST1):c.969T>A (p.Asp323Glu) rs1941875734

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