List of variants in gene VHL reported as likely benign for bone marrow disorder

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: 157

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.-64C>T	rs772944298	0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=)	rs587780993	0.00014
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.135G>A (p.Pro45=)	rs773519476	0.00007
NM_000551.4(VHL):c.312C>T (p.Gly104=)	rs946898891	0.00007
NM_000551.4(VHL):c.340+10C>T	rs777622214	0.00006
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+20G>A	rs757151154	0.00003
NM_000551.4(VHL):c.340+8C>A	rs756068442	0.00003
NM_000551.4(VHL):c.54A>C (p.Ala18=)	rs1305687580	0.00003
NM_000551.4(VHL):c.114C>T (p.Ser38=)	rs417164	0.00002
NM_000551.4(VHL):c.237C>T (p.Arg79=)	rs760899424	0.00002
NM_000551.4(VHL):c.267C>A (p.Leu89=)	rs755794553	0.00002
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.336C>T (p.Tyr112=)	rs751232153	0.00002
NM_000551.4(VHL):c.340+11G>A	rs1309285376	0.00002
NM_000551.4(VHL):c.102C>T (p.Gly34=)	rs967421751	0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=)	rs1310829877	0.00001
NM_000551.4(VHL):c.108G>A (p.Glu36=)	rs1553619344	0.00001
NM_000551.4(VHL):c.129C>T (p.Ser43=)	rs864622645	0.00001
NM_000551.4(VHL):c.134C>G (p.Pro45Arg)	rs199583685	0.00001
NM_000551.4(VHL):c.171G>A (p.Gly57=)	rs750103719	0.00001
NM_000551.4(VHL):c.180G>C (p.Arg60=)	rs1224891387	0.00001
NM_000551.4(VHL):c.192C>T (p.Arg64=)	rs1012545817	0.00001
NM_000551.4(VHL):c.216C>T (p.Ser72=)	rs774557051	0.00001
NM_000551.4(VHL):c.222C>G (p.Val74=)	rs759737367	0.00001
NM_000551.4(VHL):c.225C>T (p.Ile75=)	rs768104793	0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys)	rs200885420	0.00001
NM_000551.4(VHL):c.249C>G (p.Val83=)	rs1271292937	0.00001
NM_000551.4(VHL):c.252G>C (p.Val84=)	rs1436342215	0.00001
NM_000551.4(VHL):c.255G>A (p.Leu85=)	rs876658508	0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=)	rs781063331	0.00001
NM_000551.4(VHL):c.261A>G (p.Val87=)	rs1386184754	0.00001
NM_000551.4(VHL):c.285G>T (p.Pro95=)	rs975432073	0.00001
NM_000551.4(VHL):c.291C>G (p.Pro97=)	rs1805159	0.00001
NM_000551.4(VHL):c.39A>G (p.Val13=)	rs996469746	0.00001
NM_000551.4(VHL):c.48G>A (p.Glu16=)	rs1057522140	0.00001
NM_000551.4(VHL):c.90G>A (p.Gly30=)	rs391818	0.00001
NM_000551.4(VHL):c.99G>C (p.Ser33=)	rs912159589	0.00001
NM_000551.4(VHL):c.-10C>T	rs1192379474
NM_000551.4(VHL):c.-61_-51dup	rs727503743
NM_000551.4(VHL):c.105C>A (p.Ala35=)	rs1310829877
NM_000551.4(VHL):c.111G>A (p.Glu37=)
NM_000551.4(VHL):c.117C>T (p.Gly39=)	rs1057521552
NM_000551.4(VHL):c.120G>A (p.Pro40=)	rs1189123803
NM_000551.4(VHL):c.123A>G (p.Glu41=)	rs2125124753
NM_000551.4(VHL):c.129C>G (p.Ser43=)	rs864622645
NM_000551.4(VHL):c.12G>A (p.Arg4=)	rs1553619274
NM_000551.4(VHL):c.132C>T (p.Gly44=)	rs1696123413
NM_000551.4(VHL):c.135G>C (p.Pro45=)	rs773519476
NM_000551.4(VHL):c.135G>T (p.Pro45=)
NM_000551.4(VHL):c.141A>G (p.Glu47=)	rs1353920298
NM_000551.4(VHL):c.147C>A (p.Gly49=)
NM_000551.4(VHL):c.150C>A (p.Ala50=)	rs61751580
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	rs373068386
NM_000551.4(VHL):c.156G>A (p.Glu52=)	rs2125124847
NM_000551.4(VHL):c.159G>A (p.Glu53=)	rs1553619385
NM_000551.4(VHL):c.15G>A (p.Ala5=)	rs1355874307
NM_000551.4(VHL):c.165G>A (p.Glu55=)	rs1553619391
NM_000551.4(VHL):c.168C>A (p.Ala56=)	rs864622714
NM_000551.4(VHL):c.168C>G (p.Ala56=)	rs864622714
NM_000551.4(VHL):c.168C>T (p.Ala56=)	rs864622714
NM_000551.4(VHL):c.171G>C (p.Gly57=)	rs750103719
NM_000551.4(VHL):c.172C>A (p.Arg58=)	rs757781272
NM_000551.4(VHL):c.174G>A (p.Arg58=)	rs2125124907
NM_000551.4(VHL):c.177G>A (p.Pro59=)	rs2125124920
NM_000551.4(VHL):c.180G>A (p.Arg60=)	rs1224891387
NM_000551.4(VHL):c.183C>A (p.Pro61=)	rs63650860
NM_000551.4(VHL):c.186_187delinsTT (p.Val62_Leu63=)	rs2125124945
NM_000551.4(VHL):c.187C>T (p.Leu63=)
NM_000551.4(VHL):c.189G>A (p.Leu63=)	rs1575921711
NM_000551.4(VHL):c.18G>A (p.Glu6=)	rs1004620245
NM_000551.4(VHL):c.195G>C (p.Ser65=)	rs1553619409
NM_000551.4(VHL):c.198G>A (p.Val66=)
NM_000551.4(VHL):c.201C>T (p.Asn67=)	rs769658318
NM_000551.4(VHL):c.204G>C (p.Ser68=)	rs773246608
NM_000551.4(VHL):c.204G>T (p.Ser68=)	rs773246608
NM_000551.4(VHL):c.207C>G (p.Arg69=)	rs1060503550
NM_000551.4(VHL):c.207C>T (p.Arg69=)	rs1060503550
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.222C>T (p.Val74=)	rs759737367
NM_000551.4(VHL):c.228C>T (p.Phe76=)	rs1575921940
NM_000551.4(VHL):c.237C>G (p.Arg79=)	rs760899424
NM_000551.4(VHL):c.240T>C (p.Ser80=)	rs1553619424
NM_000551.4(VHL):c.243G>C (p.Pro81=)
NM_000551.4(VHL):c.252G>A (p.Val84=)	rs1436342215
NM_000551.4(VHL):c.255G>T (p.Leu85=)	rs876658508
NM_000551.4(VHL):c.258C>T (p.Pro86=)	rs781063331
NM_000551.4(VHL):c.267C>G (p.Leu89=)	rs755794553
NM_000551.4(VHL):c.267C>T (p.Leu89=)	rs755794553
NM_000551.4(VHL):c.270C>T (p.Asn90=)
NM_000551.4(VHL):c.273C>T (p.Phe91=)
NM_000551.4(VHL):c.276C>T (p.Asp92=)	rs1442093467
NM_000551.4(VHL):c.27C>T (p.Asp9=)	rs1017141110
NM_000551.4(VHL):c.282G>A (p.Glu94=)
NM_000551.4(VHL):c.285G>A (p.Pro95=)	rs975432073
NM_000551.4(VHL):c.288G>A (p.Gln96=)	rs1553619446
NM_000551.4(VHL):c.291C>T (p.Pro97=)	rs1805159
NM_000551.4(VHL):c.294C>T (p.Tyr98=)	rs1559426115
NM_000551.4(VHL):c.297A>C (p.Pro99=)	rs774753107
NM_000551.4(VHL):c.300G>A (p.Thr100=)	rs915491008
NM_000551.4(VHL):c.300G>T (p.Thr100=)	rs915491008
NM_000551.4(VHL):c.303G>A (p.Leu101=)	rs766583052
NM_000551.4(VHL):c.306G>A (p.Pro102=)
NM_000551.4(VHL):c.306G>T (p.Pro102=)	rs550155859
NM_000551.4(VHL):c.309T>C (p.Pro103=)	rs1262511541
NM_000551.4(VHL):c.30G>A (p.Glu10=)	rs963501454
NM_000551.4(VHL):c.315G>A (p.Thr105=)	rs769102979
NM_000551.4(VHL):c.315G>T (p.Thr105=)	rs769102979
NM_000551.4(VHL):c.318C>T (p.Gly106=)
NM_000551.4(VHL):c.324C>T (p.Arg108=)	rs878854124
NM_000551.4(VHL):c.327C>A (p.Ile109=)	rs863224371
NM_000551.4(VHL):c.327C>T (p.Ile109=)	rs863224371
NM_000551.4(VHL):c.330C>T (p.His110=)
NM_000551.4(VHL):c.333C>T (p.Ser111=)	rs765978945
NM_000551.4(VHL):c.33C>G (p.Ala11=)
NM_000551.4(VHL):c.33C>T (p.Ala11=)	rs778674343
NM_000551.4(VHL):c.340+10C>A	rs777622214
NM_000551.4(VHL):c.340+10C>G
NM_000551.4(VHL):c.340+10del	rs2125125434
NM_000551.4(VHL):c.340+11G>T
NM_000551.4(VHL):c.340+14G>C
NM_000551.4(VHL):c.340+15C>T
NM_000551.4(VHL):c.340+20G>T	rs757151154
NM_000551.4(VHL):c.340+5G>A	rs61758376
NM_000551.4(VHL):c.340+5_340+17dup
NM_000551.4(VHL):c.340+7G>C	rs869025635
NM_000551.4(VHL):c.340+7del	rs1575922613
NM_000551.4(VHL):c.340+8C>T	rs756068442
NM_000551.4(VHL):c.340+9C>T	rs1575922622
NM_000551.4(VHL):c.39A>T (p.Val13=)	rs996469746
NM_000551.4(VHL):c.42C>A (p.Gly14=)
NM_000551.4(VHL):c.45G>A (p.Ala15=)	rs563813895
NM_000551.4(VHL):c.45G>C (p.Ala15=)	rs563813895
NM_000551.4(VHL):c.45G>T (p.Ala15=)
NM_000551.4(VHL):c.57C>A (p.Gly19=)	rs1453582828
NM_000551.4(VHL):c.57C>T (p.Gly19=)
NM_000551.4(VHL):c.60C>G (p.Val20=)	rs1553619311
NM_000551.4(VHL):c.60C>T (p.Val20=)
NM_000551.4(VHL):c.63A>G (p.Glu21=)	rs1696117984
NM_000551.4(VHL):c.66G>A (p.Glu22=)	rs768452685
NM_000551.4(VHL):c.69C>T (p.Tyr23=)	rs1553619313
NM_000551.4(VHL):c.6C>G (p.Pro2=)	rs1014417508
NM_000551.4(VHL):c.6C>T (p.Pro2=)	rs1014417508
NM_000551.4(VHL):c.72C>A (p.Gly24=)	rs1375079282
NM_000551.4(VHL):c.72C>T (p.Gly24=)
NM_000551.4(VHL):c.75T>C (p.Pro25=)	rs1553619317
NM_000551.4(VHL):c.87C>A (p.Gly29=)
NM_000551.4(VHL):c.87C>T (p.Gly29=)	rs987301475
NM_000551.4(VHL):c.93G>A (p.Glu31=)	rs1438911242
NM_000551.4(VHL):c.99G>T (p.Ser33=)
NM_000551.4(VHL):c.9G>C (p.Arg3=)
NM_000551.4(VHL):c.9G>T (p.Arg3=)	rs1696113334

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