List of variants in gene combination LOC107303340, VHL reported as uncertain significance for Hereditary cancer-predisposing syndrome

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: 96

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)	rs138780791	0.00013
NM_000551.4(VHL):c.556G>A (p.Glu186Lys)	rs367545984	0.00004
NM_000551.4(VHL):c.427G>C (p.Asp143His)	rs372757722	0.00003
NM_000551.4(VHL):c.464-1262G>A	rs271992	0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)	rs561874453	0.00003
NM_000551.4(VHL):c.439A>G (p.Ile147Val)	rs1057517560	0.00002
NM_000551.4(VHL):c.526A>G (p.Arg176Gly)	rs1575932259	0.00002
NM_000551.4(VHL):c.605C>T (p.Thr202Ile)	rs779514074	0.00002
NM_000551.4(VHL):c.341-25_370dup	rs1553619923	0.00001
NM_000551.4(VHL):c.354C>T (p.Leu118=)	rs1051892430	0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr)	rs375401722	0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly)	rs1354593943	0.00001
NM_000551.4(VHL):c.385C>T (p.Leu129=)	rs369018004	0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)	rs878854125	0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys)	rs587780732	0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=)	rs773556807	0.00001
NM_000551.4(VHL):c.440T>C (p.Ile147Thr)	rs1060503555	0.00001
NM_000551.4(VHL):c.464-3C>T	rs904414377	0.00001
NM_000551.4(VHL):c.513G>T (p.Lys171Asn)	rs1365445365	0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val)	rs377715747	0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	rs5030823	0.00001
NM_000551.4(VHL):c.578A>G (p.Asn193Ser)	rs879254225	0.00001
NM_000551.4(VHL):c.596A>C (p.Glu199Ala)	rs760690217	0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln)	rs754016774	0.00001
NM_000551.4(VHL):c.608A>G (p.Gln203Arg)	rs1270568049	0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)	rs1553620389	0.00001
NM_000551.4(VHL):c.340+816A>G	rs1031288121
NM_000551.4(VHL):c.340+832T>C	rs1696165411
NM_000551.4(VHL):c.341-4A>T	rs1559428033
NM_000551.4(VHL):c.341-62G>T	rs181985090
NM_000551.4(VHL):c.347T>G (p.Leu116Arg)	rs879254230
NM_000551.4(VHL):c.364G>A (p.Ala122Thr)	rs1064793291
NM_000551.4(VHL):c.365C>A (p.Ala122Glu)
NM_000551.4(VHL):c.378T>G (p.Asp126Glu)	rs764053615
NM_000551.4(VHL):c.385C>G (p.Leu129Val)	rs369018004
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
NM_000551.4(VHL):c.391A>G (p.Asn131Asp)
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)	rs1060503565
NM_000551.4(VHL):c.406T>C (p.Phe136Leu)
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
NM_000551.4(VHL):c.407T>G (p.Phe136Cys)	rs5030833
NM_000551.4(VHL):c.409G>A (p.Val137Met)
NM_000551.4(VHL):c.418C>G (p.Leu140Val)	rs768637170
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)	rs1064796570
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)	rs869025650
NM_000551.4(VHL):c.431G>A (p.Gly144Glu)	rs2125128440
NM_000551.4(VHL):c.433C>G (p.Gln145Glu)	rs749704215
NM_000551.4(VHL):c.435G>C (p.Gln145His)	rs771727849
NM_000551.4(VHL):c.437C>G (p.Pro146Arg)
NM_000551.4(VHL):c.439A>T (p.Ile147Phe)
NM_000551.4(VHL):c.448A>C (p.Asn150His)
NM_000551.4(VHL):c.448A>G (p.Asn150Asp)
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)	rs760184234
NM_000551.4(VHL):c.451A>C (p.Ile151Leu)	rs876659313
NM_000551.4(VHL):c.451A>G (p.Ile151Val)	rs876659313
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)	rs193922611
NM_000551.4(VHL):c.461C>G (p.Pro154Arg)	rs1399097617
NM_000551.4(VHL):c.463+4C>G
NM_000551.4(VHL):c.463+5T>G	rs1003364563
NM_000551.4(VHL):c.464-7_464-3del
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.493G>A (p.Val165Ile)
NM_000551.4(VHL):c.508G>A (p.Val170Ile)	rs1553620326
NM_000551.4(VHL):c.513G>C (p.Lys171Asn)	rs1365445365
NM_000551.4(VHL):c.514C>T (p.Pro172Ser)
NM_000551.4(VHL):c.515C>T (p.Pro172Leu)
NM_000551.4(VHL):c.517G>C (p.Glu173Gln)
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr)	rs1060503566
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe)	rs193922613
NM_000551.4(VHL):c.529_546dup (p.Arg182_Ser183insArgLeuAspIleValArg)
NM_000551.4(VHL):c.532C>G (p.Leu178Val)	rs755146587
NM_000551.4(VHL):c.535G>A (p.Asp179Asn)	rs767780451
NM_000551.4(VHL):c.541G>A (p.Val181Ile)	rs878854127
NM_000551.4(VHL):c.541G>C (p.Val181Leu)
NM_000551.4(VHL):c.545G>A (p.Arg182Lys)	rs749774529
NM_000551.4(VHL):c.558A>C (p.Glu186Asp)	rs587778744
NM_000551.4(VHL):c.569A>G (p.Asp190Gly)	rs2125130719
NM_000551.4(VHL):c.572A>C (p.His191Pro)	rs370050374
NM_000551.4(VHL):c.572A>G (p.His191Arg)	rs370050374
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.579T>A (p.Asn193Lys)	rs1060503558
NM_000551.4(VHL):c.580G>A (p.Val194Met)
NM_000551.4(VHL):c.585G>C (p.Gln195His)	rs878854128
NM_000551.4(VHL):c.586A>G (p.Lys196Glu)	rs281860296
NM_000551.4(VHL):c.607C>A (p.Gln203Lys)	rs750711842
NM_000551.4(VHL):c.610G>C (p.Glu204Gln)	rs758853661
NM_000551.4(VHL):c.610G>T (p.Glu204Ter)	rs758853661
NM_000551.4(VHL):c.613C>G (p.Arg205Gly)	rs199926195
NM_000551.4(VHL):c.614G>T (p.Arg205Leu)	rs777130107
NM_000551.4(VHL):c.622C>T (p.His208Tyr)	rs121913347
NM_000551.4(VHL):c.626A>G (p.Gln209Arg)	rs770746627
NM_000551.4(VHL):c.627A>T (p.Gln209His)	rs758494789
NM_000551.4(VHL):c.631A>T (p.Met211Leu)
NM_000551.4(VHL):c.639T>G (p.Asp213Glu)
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)	rs1575932781

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