ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_000551.4(VHL):c.340+686_340+687del rs944477902 0.00037
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_000551.4(VHL):c.340+727T>G rs996243576 0.00011
NM_000551.4(VHL):c.340+742G>T rs186099278 0.00009
NM_000551.4(VHL):c.340+790G>A rs527534541 0.00009
NM_000551.4(VHL):c.340+691C>G rs1041395081 0.00008
NM_000551.4(VHL):c.464-10G>A rs552930903 0.00006
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.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.612G>A (p.Glu204=) rs747805018 0.00003
NM_000551.4(VHL):c.340+604C>T rs192085256 0.00002
NM_000551.4(VHL):c.340+634C>T rs1461514639 0.00002
NM_000551.4(VHL):c.340+789C>G rs1241756327 0.00002
NM_000551.4(VHL):c.340+800G>A rs999509680 0.00002
NM_000551.4(VHL):c.463+15C>G rs761828544 0.00002
NM_000551.4(VHL):c.340+601C>G rs978373924 0.00001
NM_000551.4(VHL):c.340+631A>G rs947805761 0.00001
NM_000551.4(VHL):c.340+675A>G rs1194123576 0.00001
NM_000551.4(VHL):c.340+707G>A rs924279704 0.00001
NM_000551.4(VHL):c.340+713C>T rs1432659600 0.00001
NM_000551.4(VHL):c.340+738C>T rs1274332503 0.00001
NM_000551.4(VHL):c.340+791G>A rs903894625 0.00001
NM_000551.4(VHL):c.340+809A>G rs1377166151 0.00001
NM_000551.4(VHL):c.341-10G>C rs140064807 0.00001
NM_000551.4(VHL):c.354C>T (p.Leu118=) rs1051892430 0.00001
NM_000551.4(VHL):c.385C>T (p.Leu129=) rs369018004 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.463+12T>C rs1382435156 0.00001
NM_000551.4(VHL):c.465G>A (p.Val155=) rs1696354036 0.00001
NM_000551.4(VHL):c.471T>C (p.Thr157=) rs1252473811 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.561T>C (p.Asp187=) rs370769257 0.00001
NM_000551.4(VHL):c.582G>A (p.Val194=) rs1696363804 0.00001
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599 0.00001
NM_000551.4(VHL):c.606A>G (p.Thr202=) rs1575932637 0.00001
NM_000551.4(VHL):c.627A>G (p.Gln209=) rs758494789 0.00001
NM_000551.4(VHL):c.340+577C>G rs1696157821
NM_000551.4(VHL):c.340+595C>A rs1335472800
NM_000551.4(VHL):c.340+610C>T
NM_000551.4(VHL):c.340+623G>C
NM_000551.4(VHL):c.340+626A>G rs1696159137
NM_000551.4(VHL):c.340+627A>G
NM_000551.4(VHL):c.340+631A>T rs947805761
NM_000551.4(VHL):c.340+633T>C rs2125125904
NM_000551.4(VHL):c.340+646A>G rs765323685
NM_000551.4(VHL):c.340+646A>T rs765323685
NM_000551.4(VHL):c.340+653_340+654del rs1420441572
NM_000551.4(VHL):c.340+670A>T
NM_000551.4(VHL):c.340+688C>T rs1696160788
NM_000551.4(VHL):c.340+694A>C rs1441240589
NM_000551.4(VHL):c.340+701G>A rs1039517619
NM_000551.4(VHL):c.340+701G>T rs1039517619
NM_000551.4(VHL):c.340+703C>T
NM_000551.4(VHL):c.340+704C>A
NM_000551.4(VHL):c.340+704C>G
NM_000551.4(VHL):c.340+714G>A rs1054796088
NM_000551.4(VHL):c.340+714G>C rs1054796088
NM_000551.4(VHL):c.340+714G>T rs1054796088
NM_000551.4(VHL):c.340+716G>C rs1696162086
NM_000551.4(VHL):c.340+721A>T
NM_000551.4(VHL):c.340+728dup rs1232519357
NM_000551.4(VHL):c.340+730C>G rs548008573
NM_000551.4(VHL):c.340+730C>T rs548008573
NM_000551.4(VHL):c.340+737G>C rs1696162735
NM_000551.4(VHL):c.340+745A>G
NM_000551.4(VHL):c.340+745A>T
NM_000551.4(VHL):c.340+796G>A
NM_000551.4(VHL):c.340+802G>C
NM_000551.4(VHL):c.340+803A>G rs2125126112
NM_000551.4(VHL):c.340+806A>G
NM_000551.4(VHL):c.340+808G>C
NM_000551.4(VHL):c.340+809A>T rs1377166151
NM_000551.4(VHL):c.340+819A>G rs1696164925
NM_000551.4(VHL):c.340+821C>G rs552399136
NM_000551.4(VHL):c.340+826C>T rs2125126135
NM_000551.4(VHL):c.340+833A>T rs2125126148
NM_000551.4(VHL):c.341-11T>G rs2125128187
NM_000551.4(VHL):c.341-14G>A rs1696259908
NM_000551.4(VHL):c.341-15T>C rs2125128176
NM_000551.4(VHL):c.341-18C>T
NM_000551.4(VHL):c.341-20A>G
NM_000551.4(VHL):c.341-4A>T rs1559428033
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.341-5G>C
NM_000551.4(VHL):c.341-7C>T rs1308495590
NM_000551.4(VHL):c.341-8C>T rs1272767361
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.4(VHL):c.357C>T (p.Phe119=) rs1559428077
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.387G>C (p.Leu129=) rs778846471
NM_000551.4(VHL):c.393C>T (p.Asn131=)
NM_000551.4(VHL):c.402A>G (p.Glu134=) rs201482330
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.420C>T (p.Leu140=) rs369465430
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.444T>C (p.Phe148=)
NM_000551.4(VHL):c.447C>T (p.Ala149=) rs2125128479
NM_000551.4(VHL):c.450T>C (p.Asn150=)
NM_000551.4(VHL):c.456A>G (p.Thr152=)
NM_000551.4(VHL):c.457C>T (p.Leu153=) rs2125128512
NM_000551.4(VHL):c.459G>A (p.Leu153=) rs1382653522
NM_000551.4(VHL):c.459G>T (p.Leu153=)
NM_000551.4(VHL):c.463+13T>G
NM_000551.4(VHL):c.463+14A>C
NM_000551.4(VHL):c.463+15C>A
NM_000551.4(VHL):c.463+16T>G rs2125128572
NM_000551.4(VHL):c.463+18T>A
NM_000551.4(VHL):c.463+5T>G rs1003364563
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.463+9G>T
NM_000551.4(VHL):c.464-12T>C rs746646171
NM_000551.4(VHL):c.464-16G>A
NM_000551.4(VHL):c.464-16G>C
NM_000551.4(VHL):c.464-16G>T rs1453921703
NM_000551.4(VHL):c.464-17G>C
NM_000551.4(VHL):c.464-6T>A
NM_000551.4(VHL):c.464-6T>G
NM_000551.4(VHL):c.464-7C>A
NM_000551.4(VHL):c.464-7C>T
NM_000551.4(VHL):c.464-9C>A
NM_000551.4(VHL):c.465G>T (p.Val155=) rs1696354036
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.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.495T>A (p.Val165=)
NM_000551.4(VHL):c.498C>T (p.Val166=) rs2125130531
NM_000551.4(VHL):c.501G>C (p.Arg167=) rs1461479062
NM_000551.4(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.4(VHL):c.507A>G (p.Leu169=)
NM_000551.4(VHL):c.510C>A (p.Val170=)
NM_000551.4(VHL):c.510C>G (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.532C>T (p.Leu178=) rs755146587
NM_000551.4(VHL):c.537C>T (p.Asp179=)
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.570C>T (p.Asp190=) rs2125130723
NM_000551.4(VHL):c.573C>T (p.His191=)
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.579T>C (p.Asn193=) rs1060503558
NM_000551.4(VHL):c.582G>T (p.Val194=)
NM_000551.4(VHL):c.588A>G (p.Lys196=) rs935543450
NM_000551.4(VHL):c.591C>T (p.Asp197=) rs1575932584
NM_000551.4(VHL):c.592C>T (p.Leu198=) rs1187217673
NM_000551.4(VHL):c.594G>A (p.Leu198=) rs1575932599
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.603G>C (p.Leu201=)
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.609G>A (p.Gln203=)
NM_000551.4(VHL):c.618T>C (p.Ile206=) rs1575932691
NM_000551.4(VHL):c.630G>A (p.Arg210=) rs1575932755

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