List of variants in gene combination LOC107303340, VHL reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.463+8C>T	rs5030834	0.00051
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.554A>G (p.Tyr185Cys)	rs561874453	0.00003
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	rs104893831	0.00002
NM_000551.4(VHL):c.341-25_370dup	rs1553619923	0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	rs5030820	0.00001
NM_000551.4(VHL):c.341-21_341-17del	rs869025639
NM_000551.4(VHL):c.341-2A>G	rs869025637
NM_000551.4(VHL):c.341-3T>G	rs1131690965
NM_000551.4(VHL):c.346dup (p.Leu116fs)	rs1559428051
NM_000551.4(VHL):c.350G>A (p.Trp117Ter)	rs1559428056
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	rs727504215
NM_000551.4(VHL):c.351del (p.Trp117fs)	rs869025640
NM_000551.4(VHL):c.352_353insA (p.Leu118fs)	rs869025641
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	rs1559428077
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.374A>C (p.His125Pro)	rs869025643
NM_000551.4(VHL):c.374_375del (p.His125fs)	rs869025644
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)	rs869025645
NM_000551.4(VHL):c.381del (p.Leu128fs)	rs1559428107
NM_000551.4(VHL):c.386T>C (p.Leu129Pro)	rs1559428119
NM_000551.4(VHL):c.388G>C (p.Val130Leu)	rs104893830
NM_000551.4(VHL):c.388G>T (p.Val130Phe)	rs104893830
NM_000551.4(VHL):c.393_394dup (p.Gln132fs)	rs1559428128
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)	rs5030813
NM_000551.4(VHL):c.397del (p.Thr133fs)	rs1559428134
NM_000551.4(VHL):c.402del (p.Glu134fs)	rs869025646
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	rs5030833
NM_000551.4(VHL):c.407T>G (p.Phe136Cys)	rs5030833
NM_000551.4(VHL):c.413del (p.Pro138fs)	rs1559428164
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.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)	rs1559428180
NM_000551.4(VHL):c.429C>G (p.Asp143Glu)	rs773556807
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)	rs869025650
NM_000551.4(VHL):c.431del (p.Gly144fs)	rs869025651
NM_000551.4(VHL):c.433C>T (p.Gln145Ter)	rs749704215
NM_000551.4(VHL):c.433_439del (p.Gln145fs)	rs1559428217
NM_000551.4(VHL):c.435_436del (p.Gln145fs)	rs869025652
NM_000551.4(VHL):c.444del (p.Phe148fs)	rs869025653
NM_000551.4(VHL):c.444dup (p.Ala149fs)	rs869025653
NM_000551.4(VHL):c.445G>A (p.Ala149Thr)	rs587780077
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.445dup (p.Ala149fs)	rs1559428232
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)	rs760184234
NM_000551.4(VHL):c.449del (p.Asn150fs)	rs794727253
NM_000551.4(VHL):c.452T>G (p.Ile151Ser)	rs869025655
NM_000551.4(VHL):c.454_463+17del	rs869025656
NM_000551.4(VHL):c.462del (p.Val155fs)	rs1559428267
NM_000551.4(VHL):c.463+1G>C	rs869025657
NM_000551.4(VHL):c.463+37_463+39del	rs869025658
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>C	rs5030817
NM_000551.4(VHL):c.464-1G>T	rs5030817
NM_000551.4(VHL):c.464-2A>G	rs5030816
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	rs397516441
NM_000551.4(VHL):c.470C>T (p.Thr157Ile)	rs869025660
NM_000551.4(VHL):c.471dup (p.Leu158fs)	rs869025661
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)	rs121913346
NM_000551.4(VHL):c.477del (p.Glu160fs)	rs730882020
NM_000551.4(VHL):c.477dup (p.Glu160fs)	rs730882020
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.483_500dup (p.Cys162_Arg167dup)	rs1553620312
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	rs1553620313
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)	rs397516444
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)	rs397516444
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.490C>G (p.Gln164Glu)	rs5030819
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.496_506del (p.Val166fs)	rs869025663
NM_000551.4(VHL):c.497T>A (p.Val166Asp)	rs397516445
NM_000551.4(VHL):c.497T>C (p.Val166Ala)	rs397516445
NM_000551.4(VHL):c.497T>G (p.Val166Gly)	rs397516445
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>C (p.Arg167Pro)	rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	rs398123483
NM_000551.4(VHL):c.509T>A (p.Val170Asp)	rs864321642
NM_000551.4(VHL):c.526del (p.Arg176fs)	rs1559429711
NM_000551.4(VHL):c.529A>T (p.Arg177Ter)	rs1559429717
NM_000551.4(VHL):c.533T>A (p.Leu178Gln)	rs5030822
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	rs5030822
NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs)	rs1559429736
NM_000551.4(VHL):c.539T>G (p.Ile180Ser)	rs1559429750
NM_000551.4(VHL):c.540_543del (p.Val181fs)	rs869025664
NM_000551.4(VHL):c.546del (p.Arg182fs)	rs869025665
NM_000551.4(VHL):c.547del (p.Ser183fs)	rs1559429778
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	rs5030823
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	rs864622109
NM_000551.4(VHL):c.558_560del (p.Glu186del)	rs1559429813
NM_000551.4(VHL):c.563T>A (p.Leu188Gln)	rs1559429824
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	rs1559429824
NM_000551.4(VHL):c.565del (p.Glu189fs)	rs1559429829
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)	rs902694906
NM_000551.4(VHL):c.585_606dup (p.Gln203fs)	rs1559429876
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	rs281860296
NM_000551.4(VHL):c.587_590dup (p.Asp197fs)	rs869025666
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	rs869025667
NM_000551.4(VHL):c.641G>T (p.Ter214Leu)	rs869025668
NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	rs1559430011
NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	rs1559430011
NM_198156.3(VHL):c.341-3273del	rs869025638

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