List of variants reported as likely pathogenic by Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital)

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.2069T>A (p.Val690Glu)	rs2129318790
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter)	rs2130712164
NM_005957.5(MTHFR):c.602A>C (p.His201Pro)	rs1644256586
NM_021224.6(ZNF462):c.6431C>A (p.Ser2144Ter)	rs2132039347

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