List of variants in gene combination LOC107303340, VHL reported as uncertain significance for not provided

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: 56

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.463+8C>T	rs5030834	0.00051
NM_000551.4(VHL):c.556G>A (p.Glu186Lys)	rs367545984	0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu)	rs200019083	0.00004
NM_000551.4(VHL):c.427G>C (p.Asp143His)	rs372757722	0.00003
NM_000551.4(VHL):c.463+4C>T	rs879253989	0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)	rs561874453	0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His)	rs777130107	0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	rs774380450	0.00003
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	rs104893831	0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val)	rs1057517560	0.00002
NM_000551.4(VHL):c.605C>T (p.Thr202Ile)	rs779514074	0.00002
NM_000551.4(VHL):c.620C>T (p.Ala207Val)	rs1060503549	0.00002
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.408T>G (p.Phe136Leu)	rs878854125	0.00001
NM_000551.4(VHL):c.413C>T (p.Pro138Leu)	rs780178275	0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys)	rs587780732	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.538A>G (p.Ile180Val)	rs377715747	0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)	rs778205243	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.*1145C>T	rs2125131630
NM_000551.4(VHL):c.*9G>C
NM_000551.4(VHL):c.341-21_341-19del	rs779747717
NM_000551.4(VHL):c.341-4A>T	rs1559428033
NM_000551.4(VHL):c.345C>G (p.His115Gln)	rs864622646
NM_000551.4(VHL):c.347T>G (p.Leu116Arg)	rs879254230
NM_000551.4(VHL):c.364G>T (p.Ala122Ser)	rs1064793291
NM_000551.4(VHL):c.370A>G (p.Thr124Ala)	rs1559428091
NM_000551.4(VHL):c.376G>C (p.Asp126His)	rs104893831
NM_000551.4(VHL):c.382C>T (p.Leu128Phe)	rs1553619956
NM_000551.4(VHL):c.385C>G (p.Leu129Val)	rs369018004
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)	rs1064794272
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)	rs1064796570
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)	rs760184234
NM_000551.4(VHL):c.461C>G (p.Pro154Arg)	rs1399097617
NM_000551.4(VHL):c.463+3A>G	rs1131690954
NM_000551.4(VHL):c.464-3C>A	rs904414377
NM_000551.4(VHL):c.464T>C (p.Val155Ala)
NM_000551.4(VHL):c.478G>C (p.Glu160Gln)	rs1696354965
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	rs5030821
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)
NM_000551.4(VHL):c.508G>A (p.Val170Ile)	rs1553620326
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe)	rs193922613
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.545G>A (p.Arg182Lys)	rs749774529
NM_000551.4(VHL):c.572A>C (p.His191Pro)	rs370050374
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	rs28940300
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)	rs902694906
NM_000551.4(VHL):c.589G>C (p.Asp197His)	rs1064794951
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)	rs199926195

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