List of variants reported as pathogenic for Li-Ghorbani-Weisz-Hubshman syndrome by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys)	rs2057483219
NM_032188.3(KAT8):c.293G>A (p.Arg98Gln)	rs748699921
NM_032188.3(KAT8):c.523A>G (p.Lys175Glu)	rs2057538050
NM_032188.3(KAT8):c.543G>C (p.Lys181Asn)	rs2057538160

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