ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 1

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu) rs1236572248 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_000180.4(GUCY2D):c.1220C>A (p.Thr407Lys) rs377650196
NM_000180.4(GUCY2D):c.1220C>G (p.Thr407Arg) rs377650196
NM_000180.4(GUCY2D):c.2836G>C (p.Ala946Pro)
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu) rs1248867031
NM_000180.4(GUCY2D):c.2978del (p.Met993fs) rs1598151437
NM_000180.4(GUCY2D):c.596G>C (p.Arg199Pro) rs1370721862
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690

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