ClinVar Miner

List of variants studied for patterned macular dystrophy by Institute of Medical Molecular Genetics, University of Zurich

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu) rs1800117660
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs) rs1800116472

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