ClinVar Miner

List of variants reported as likely benign for patterned macular dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.*1230C>T rs79663042 0.01163
NM_000322.5(PRPH2):c.*1534T>C rs115252154 0.00821
NM_000322.5(PRPH2):c.*989G>A rs142990052 0.00657
NM_000322.5(PRPH2):c.*1313G>A rs115451690 0.00625
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000322.5(PRPH2):c.*1524G>C rs183409467 0.00247
NM_000322.5(PRPH2):c.*1372C>A rs56385342 0.00080
NM_000322.5(PRPH2):c.909C>T (p.Ser303=) rs144111167 0.00049
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000322.5(PRPH2):c.*1121A>C rs187919973 0.00004
NM_000322.5(PRPH2):c.*484del rs55851577
NM_000322.5(PRPH2):c.483C>T (p.Ile161=) rs76989855

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