ClinVar Miner

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

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.341-1135T>C rs572770652 0.00644
NM_000551.4(VHL):c.341-1133C>T rs116710496 0.00640
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000551.4(VHL):c.341-1173C>T rs547519244 0.00049
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.*70C>T rs552290225 0.00011
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261 0.00006
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00004
NM_000551.4(VHL):c.555C>T (p.Tyr185=) rs864622109 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000551.4(VHL):c.639T>C (p.Asp213=) rs775624944 0.00004
NM_000551.4(VHL):c.375C>T (p.His125=) rs863224372 0.00003
NM_000551.4(VHL):c.463+4C>T rs879253989 0.00003
NM_000551.4(VHL):c.549G>A (p.Ser183=) rs193922614 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.612G>A (p.Glu204=) rs747805018 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.620C>T (p.Ala207Val) rs1060503549 0.00002
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.387G>T (p.Leu129=) rs778846471 0.00001
NM_000551.4(VHL):c.417T>A (p.Ser139=) rs1406004337 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 0.00001
NM_000551.4(VHL):c.465G>A (p.Val155=) rs1696354036 0.00001
NM_000551.4(VHL):c.507A>C (p.Leu169=) rs878854126 0.00001
NM_000551.4(VHL):c.540C>T (p.Ile180=) rs374927292 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.561T>C (p.Asp187=) rs370769257 0.00001
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599 0.00001
NM_000551.4(VHL):c.627A>G (p.Gln209=) rs758494789 0.00001
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.4(VHL):c.387G>A (p.Leu129=)
NM_000551.4(VHL):c.393C>T (p.Asn131=)
NM_000551.4(VHL):c.411G>C (p.Val137=) rs1553619969
NM_000551.4(VHL):c.417T>G (p.Ser139=) rs1406004337
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.432A>T (p.Gly144=)
NM_000551.4(VHL):c.435G>A (p.Gln145=)
NM_000551.4(VHL):c.447C>T (p.Ala149=) rs2125128479
NM_000551.4(VHL):c.456A>G (p.Thr152=)
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.474G>T (p.Leu158=) rs1575932005
NM_000551.4(VHL):c.477A>G (p.Lys159=) rs1696354920
NM_000551.4(VHL):c.480G>A (p.Glu160=)
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.510C>A (p.Val170=)
NM_000551.4(VHL):c.510C>T (p.Val170=)
NM_000551.4(VHL):c.516T>G (p.Pro172=) rs1575932227
NM_000551.4(VHL):c.519G>A (p.Glu173=)
NM_000551.4(VHL):c.522T>C (p.Asn174=) rs1057523911
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
NM_000551.4(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.4(VHL):c.552C>G (p.Leu184=)
NM_000551.4(VHL):c.562C>T (p.Leu188=)
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.584A>G (p.Gln195Arg)
NM_000551.4(VHL):c.592C>T (p.Leu198=) rs1187217673
NM_000551.4(VHL):c.597G>A (p.Glu199=) rs1387975369
NM_000551.4(VHL):c.601C>T (p.Leu201=) rs786201557
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.4(VHL):c.615C>T (p.Arg205=)
NM_000551.4(VHL):c.621A>T (p.Ala207=)
NM_000551.4(VHL):c.636A>T (p.Gly212=)

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