ClinVar Miner

List of variants studied for Weiss-Kruszka syndrome by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_021224.6(ZNF462):c.1173G>C (p.Glu391Asp)	rs1830136626
NM_021224.6(ZNF462):c.2339A>G (p.Asp780Gly)	rs1830188459
NM_021224.6(ZNF462):c.4178_4179dup (p.Trp1394fs)
NM_021224.6(ZNF462):c.5797A>T (p.Ser1933Cys)
NM_021224.6(ZNF462):c.6013-11T>A

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