List of variants in gene combination LOC107303340, VHL reported as pathogenic for Chuvash polycythemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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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.562C>G (p.Leu188Val)	rs5030824	0.00004
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.413C>T (p.Pro138Leu)	rs780178275	0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	rs5030823	0.00001
NM_000551.4(VHL):c.340+694_340+711dup	rs1575923363
NM_000551.4(VHL):c.341-1G>A	rs1575927648
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	rs104893831
NM_000551.4(VHL):c.388G>C (p.Val130Leu)	rs104893830
NM_000551.4(VHL):c.477del (p.Glu160fs)	rs730882020
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	rs5030821
NM_000551.4(VHL):c.571C>G (p.His191Asp)	rs28940301
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	rs28940300

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