ClinVar Miner

List of variants reported as pathogenic for Perlman syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.2394+5G>A rs1489037110 0.00001
NG_032572.1:g.(180137_206876)_(207051_253743)del
NG_032572.1:g.89357_172136del
NM_152383.5(DIS3L2):c.1466G>A (p.Cys489Tyr) rs387907116

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