List of variants in gene VHL reported as likely benign by GeneDx

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: 51

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HGVS	dbSNP	gnomAD frequency
NC_000003.12:g.10141751T>G	rs34271731	0.00106
NM_000551.4(VHL):c.-5A>C	rs35793832	0.00106
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_000551.4(VHL):c.-64C>T	rs772944298	0.00013
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)	rs111246617	0.00008
NM_000551.4(VHL):c.115G>C (p.Gly39Arg)	rs768650092	0.00007
NM_000551.4(VHL):c.-47C>T	rs745439844	0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)	rs1064793290	0.00006
NM_000551.4(VHL):c.-38C>T	rs933174704	0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)	rs200343185	0.00004
NM_000551.4(VHL):c.213C>T (p.Pro71=)	rs201663073	0.00004
NM_000551.4(VHL):c.340+8C>A	rs756068442	0.00003
NM_000551.4(VHL):c.301C>T (p.Leu101=)	rs772300829	0.00002
NM_000551.4(VHL):c.315G>C (p.Thr105=)	rs769102979	0.00002
NM_000551.4(VHL):c.48G>A (p.Glu16=)	rs1057522140	0.00002
NM_000551.4(VHL):c.-12_2dup (p.Met1fs)	rs886041253	0.00001
NM_000551.4(VHL):c.-15T>C	rs776768994	0.00001
NM_000551.4(VHL):c.-1A>G	rs1165233721	0.00001
NM_000551.4(VHL):c.-25C>A	rs1340337531	0.00001
NM_000551.4(VHL):c.-29C>A	rs558788270	0.00001
NM_000551.4(VHL):c.-36C>G	rs1349047110	0.00001
NM_000551.4(VHL):c.-40C>T	rs1052005754	0.00001
NM_000551.4(VHL):c.-44G>T	rs929301467	0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=)	rs1310829877	0.00001
NM_000551.4(VHL):c.134C>G (p.Pro45Arg)	rs199583685	0.00001
NM_000551.4(VHL):c.192C>T (p.Arg64=)	rs1012545817	0.00001
NM_000551.4(VHL):c.225C>T (p.Ile75=)	rs768104793	0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=)	rs781063331	0.00001
NM_000551.4(VHL):c.285G>T (p.Pro95=)	rs975432073	0.00001
NM_000551.4(VHL):c.336C>T (p.Tyr112=)	rs751232153	0.00001
NM_000551.4(VHL):c.340+3A>G	rs1575922597	0.00001
NC_000003.12:g.10141556_10141557insAAA	rs1696098774
NM_000551.4(VHL):c.-10C>T	rs1192379474
NM_000551.4(VHL):c.-13G>T	rs1057522448
NM_000551.4(VHL):c.-16C>T	rs893572737
NM_000551.4(VHL):c.-36C>T	rs1349047110
NM_000551.4(VHL):c.-47C>G	rs745439844
NM_000551.4(VHL):c.-48C>G	rs973379327
NM_000551.4(VHL):c.-61_-51dup	rs727503743
NM_000551.4(VHL):c.117C>T (p.Gly39=)	rs1057521552
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])	rs863224839
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3])	rs863224839
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	rs373068386
NM_000551.4(VHL):c.168C>G (p.Ala56=)	rs864622714
NM_000551.4(VHL):c.183C>T (p.Pro61=)	rs63650860
NM_000551.4(VHL):c.213C>G (p.Pro71=)	rs201663073
NM_000551.4(VHL):c.21C>T (p.Asn7=)	rs1060503561
NM_000551.4(VHL):c.315G>A (p.Thr105=)	rs769102979
NM_000551.4(VHL):c.340+14G>T	rs1057523480
NM_000551.4(VHL):c.66G>A (p.Glu22=)	rs768452685
NM_000551.4(VHL):c.87C>T (p.Gly29=)	rs987301475

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