ClinVar Miner

List of variants reported as likely pathogenic by Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.74773969_74776493del
NM_001032386.2(SUOX):c.475G>T (p.Glu159Ter)	rs370951378
NM_175748.4(UBR7):c.1207C>T (p.Gln403Ter)
NM_175748.4(UBR7):c.227T>G (p.Leu76Ter)

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