ClinVar Miner

List of variants reported as pathogenic for central areolar choroidal dystrophy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.2071del (p.Leu691fs)
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter) rs1761914145
NM_000322.5(PRPH2):c.273T>G (p.Tyr91Ter)
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.545dup (p.Asn182fs) rs2152010877
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789

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