ClinVar Miner

List of variants reported as pathogenic by Tan Tock Seng Hospital, National Healthcare Group

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.226_237+1del rs2103388847
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) rs1936307795

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