ClinVar Miner

List of variants reported as likely pathogenic for adult-onset foveomacular vitelliform dystrophy by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (9):
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.636C>G (p.Ser212Arg) rs1554269071
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr) rs1800114220
NM_000322.5(PRPH2):c.829-1G>A rs1582759782
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His) rs1559642470

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