ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 32
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HGVS dbSNP
NM_000551.3(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.3(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.3(VHL):c.353T>G (p.Leu118Arg) rs5030830
NM_000551.3(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.3(VHL):c.418_419insA (p.Leu140fs) rs1131690955
NM_000551.3(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.463+3A>G rs1131690954
NM_000551.3(VHL):c.464-2A>G rs5030816
NM_000551.3(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.3(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.3(VHL):c.583C>T (p.Gln195Ter) rs5030825
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT rs398123483
NM_000551.4(VHL):c.517G>T (p.Glu173Ter) rs1575932228
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001354723.2(VHL):c.*97dup rs1131690958
NM_198156.3(VHL):c.341-3192dup rs1553619976
NM_198156.3(VHL):c.341-3226del rs1553619957
NM_198156.3(VHL):c.341-3256del rs1131690956

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