ClinVar Miner

List of variants reported as uncertain significance for Primary open angle glaucoma

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Total variants: 48
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HGVS dbSNP
NM_000428.3(LTBP2):c.4356G>A (p.Pro1452=) rs137854865
NM_000428.3(LTBP2):c.4668G>C (p.Pro1556=) rs137854866
NM_001008211.1(OPTN):c.-408G>T
NM_001008211.1(OPTN):c.-453G>T rs886046816
NM_001008212.2(OPTN):c.*1042T>G rs886046827
NM_001008212.2(OPTN):c.*1063C>A rs530046832
NM_001008212.2(OPTN):c.*1089G>A rs758812707
NM_001008212.2(OPTN):c.*1111A>C
NM_001008212.2(OPTN):c.*1285T>C rs560947786
NM_001008212.2(OPTN):c.*1385T>C rs546352206
NM_001008212.2(OPTN):c.*152G>T rs886046823
NM_001008212.2(OPTN):c.*218G>C rs886046824
NM_001008212.2(OPTN):c.*222G>C
NM_001008212.2(OPTN):c.*306G>A rs538280633
NM_001008212.2(OPTN):c.*335C>T
NM_001008212.2(OPTN):c.*386C>A rs745564491
NM_001008212.2(OPTN):c.*413G>A rs886046825
NM_001008212.2(OPTN):c.*461G>A rs541250740
NM_001008212.2(OPTN):c.*631A>G
NM_001008212.2(OPTN):c.*938C>G rs886046826
NM_001008212.2(OPTN):c.-172G>A
NM_001008212.2(OPTN):c.-184C>G
NM_001008212.2(OPTN):c.-250C>A rs886046818
NM_001008212.2(OPTN):c.-272G>T rs886046817
NM_001008212.2(OPTN):c.-9A>G
NM_001008212.2(OPTN):c.1243-13G>A rs374144660
NM_001008212.2(OPTN):c.1243-9C>A
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820
NM_139281.2(WDR36):c.*1040_*1050del rs532039350
NM_139281.2(WDR36):c.*1044_*1045insG rs886059770
NM_139281.2(WDR36):c.*1061del rs886059771
NM_139281.2(WDR36):c.*2282_*2284delCTT rs886059780
NM_139281.2(WDR36):c.*2644del rs747448169
NM_139281.2(WDR36):c.*3598_*3602del rs886059792
NM_139281.2(WDR36):c.1810A>G (p.Ile604Val) rs34661294
NM_139281.2(WDR36):c.1885-20_1885-14delinsATATATATA rs886059764
NM_139281.2(WDR36):c.1885-20_1885-14delinsATATATATATA rs886059764
NM_139281.2(WDR36):c.2706+8_2706+11dup rs886059766
NM_139281.2(WDR36):c.99C>G (p.Asp33Glu) rs35629723

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