ClinVar Miner

List of variants reported as pathogenic for Pseudo-TORCH syndrome 2

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017414.4(USP18):c.1073+1G>A	rs1602534094
NM_017414.4(USP18):c.652C>T (p.Gln218Ter)	rs1085307118
USP18, 3-PRIME DEL

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