List of variants in gene combination LOC107303340, VHL reported as 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: 102

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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.492G>C (p.Gln164His)	rs1352275281	0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	rs5030820	0.00001
NC_000003.12:g.(?_10141635)_(10153670_?)del
NC_000003.12:g.(?_10141838)_(10149975_?)del
NC_000003.12:g.(?_10146504)_(10146646_?)del
NC_000003.12:g.(?_10146504)_(10149975_?)del
NC_000003.12:g.(?_10146508)_(10149971_?)del
NC_000003.12:g.(?_10146514)_(10146636_?)del
NC_000003.12:g.(?_10149777)_(10149975_?)del
NM_000551.3(VHL):c.464-?_*3705del
NM_000551.4(VHL):c.341-11T>A	rs2125128187
NM_000551.4(VHL):c.341-2A>G	rs869025637
NM_000551.4(VHL):c.341-2A>T
NM_000551.4(VHL):c.344A>G (p.His115Arg)	rs5030812
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)	rs1696261074
NM_000551.4(VHL):c.352_353insA (p.Leu118fs)	rs869025641
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	rs5030830
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)	rs1553619948
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	rs1559428077
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)
NM_000551.4(VHL):c.363dup (p.Ala122fs)	rs1575927767
NM_000551.4(VHL):c.370A>G (p.Thr124Ala)	rs1559428091
NM_000551.4(VHL):c.372_375del (p.His125fs)
NM_000551.4(VHL):c.374_375del (p.His125fs)	rs869025644
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs)	rs1696262643
NM_000551.4(VHL):c.377del (p.Asp126fs)	rs1553619952
NM_000551.4(VHL):c.382_388del (p.Leu129fs)
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)	rs2125128327
NM_000551.4(VHL):c.386T>C (p.Leu129Pro)	rs1559428119
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
NM_000551.4(VHL):c.388G>C (p.Val130Leu)	rs104893830
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	rs1553619963
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)	rs1064794272
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)	rs5030813
NM_000551.4(VHL):c.397del (p.Thr133fs)	rs1559428134
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)	rs2125128363
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	rs5030833
NM_000551.4(VHL):c.408dup (p.Val137fs)
NM_000551.4(VHL):c.414A>G (p.Pro138=)	rs869025648
NM_000551.4(VHL):c.419_420del (p.Leu140fs)	rs869025649
NM_000551.4(VHL):c.422dup (p.Asn141fs)	rs1553619976
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)	rs869025650
NM_000551.4(VHL):c.435_436del (p.Gln145fs)	rs869025652
NM_000551.4(VHL):c.444del (p.Phe148fs)	rs869025653
NM_000551.4(VHL):c.445G>C (p.Ala149Pro)	rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)	rs587780077
NM_000551.4(VHL):c.448_449del (p.Asn150fs)	rs1696266605
NM_000551.4(VHL):c.449del (p.Asn150fs)	rs794727253
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	rs869025655
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	rs1553619993
NM_000551.4(VHL):c.461C>T (p.Pro154Leu)	rs1399097617
NM_000551.4(VHL):c.463+1G>A	rs869025657
NM_000551.4(VHL):c.463+1G>T	rs869025657
NM_000551.4(VHL):c.463+2T>C	rs5030814
NM_000551.4(VHL):c.463G>A (p.Val155Met)	rs869025659
NM_000551.4(VHL):c.464-1G>A	rs5030817
NM_000551.4(VHL):c.464-1G>T	rs5030817
NM_000551.4(VHL):c.464-2A>C
NM_000551.4(VHL):c.464-2A>G	rs5030816
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	rs397516441
NM_000551.4(VHL):c.472C>G (p.Leu158Val)	rs1559429613
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)	rs121913346
NM_000551.4(VHL):c.475A>T (p.Lys159Ter)	rs1575932011
NM_000551.4(VHL):c.477del (p.Glu160fs)	rs730882020
NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	rs5030818
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	rs730882035
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	rs1553620313
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)	rs397516444
NM_000551.4(VHL):c.485_486delinsTT (p.Cys162Phe)
NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	rs5030622
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	rs5030622
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)	rs1553620318
NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	rs28940297
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	rs5030819
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	rs267607170
NM_000551.4(VHL):c.492G>T (p.Gln164His)	rs1352275281
NM_000551.4(VHL):c.493del (p.Val165fs)
NM_000551.4(VHL):c.496G>T (p.Val166Phe)	rs104893825
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)	rs5030820
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	rs5030821
NM_000551.4(VHL):c.500G>T (p.Arg167Leu)	rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	rs398123483
NM_000551.4(VHL):c.504_519del (p.Ser168fs)	rs2125130543
NM_000551.4(VHL):c.505dup (p.Leu169fs)	rs1696357569
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	rs193922613
NM_000551.4(VHL):c.524dup (p.Tyr175Ter)
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)	rs5030835
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs)	rs1559429736
NM_000551.4(VHL):c.540_543del (p.Val181fs)	rs869025664
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	rs5030823
NM_000551.4(VHL):c.555C>A (p.Tyr185Ter)
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	rs1559429824
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)	rs902694906
NM_000551.4(VHL):c.581T>G (p.Val194Gly)	rs1131690963
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	rs281860296

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