List of variants in gene combination LOC107303340, VHL reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.340+770T>C	rs1346312258	0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly)	rs1354593943	0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=)	rs773556807	0.00001
NM_000551.4(VHL):c.340+574A>T	rs982745672
NM_000551.4(VHL):c.340+694_340+711dup	rs1575923363
NM_000551.4(VHL):c.345C>A (p.His115Gln)	rs864622646
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	rs869025642
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)	rs5030832
NM_000551.4(VHL):c.362A>T (p.Asp121Val)	rs5030832
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	rs104893831
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)	rs2125128340
NM_000551.4(VHL):c.416C>T (p.Ser139Phe)	rs587780732
NM_000551.4(VHL):c.446C>T (p.Ala149Val)	rs1696266503
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
NM_000551.4(VHL):c.460C>G (p.Pro154Ala)	rs1553619993
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup)	rs1553620312
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	rs28940297
NM_000551.4(VHL):c.509T>A (p.Val170Asp)	rs864321642
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	rs864622109
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)	rs1559429824
NM_000551.4(VHL):c.571C>G (p.His191Asp)	rs28940301
NM_000551.4(VHL):c.572A>C (p.His191Pro)	rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr)	rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	rs28940300
NM_000551.4(VHL):c.575C>G (p.Pro192Arg)	rs902694906
NM_000551.4(VHL):c.586A>G (p.Lys196Glu)	rs281860296
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)	rs869025667
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)	rs754016774
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)	rs1575932781
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
NM_000551.4(VHL):c.641G>T (p.Ter214Leu)	rs869025668

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