ClinVar Miner

List of variants studied for Chuvash polycythemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00010
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	rs104893831	0.00002
NM_000551.4(VHL):c.340+770T>C	rs1346312258	0.00001
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	rs5030826

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