ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_000551.3(VHL):c.*1465C>A rs183067022
NM_000551.3(VHL):c.*1960G>A rs9822696
NM_000551.3(VHL):c.*3492_*3493dup rs112494627
NM_000551.3(VHL):c.*523del rs546118793
NM_000551.3(VHL):c.*7C>A rs778005138
NM_000551.3(VHL):c.*823G>A rs7629500
NM_000551.3(VHL):c.341-10G>C rs140064807
NM_000551.3(VHL):c.341-1133C>T rs116710496
NM_000551.3(VHL):c.341-1135T>C rs572770652
NM_000551.3(VHL):c.341-1173C>T rs547519244
NM_000551.3(VHL):c.341-182C>T rs552624308
NM_000551.3(VHL):c.341-216C>T rs143057620
NM_000551.3(VHL):c.341-21_341-17del rs869025639
NM_000551.3(VHL):c.341-4A>T rs1559428033
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.3(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
NM_000551.3(VHL):c.387G>T (p.Leu129=) rs778846471
NM_000551.3(VHL):c.402A>G (p.Glu134=) rs201482330
NM_000551.3(VHL):c.420C>A (p.Leu140=) rs369465430
NM_000551.3(VHL):c.426T>C (p.Val142=) rs143594610
NM_000551.3(VHL):c.429C>T (p.Asp143=) rs773556807
NM_000551.3(VHL):c.463+12T>C rs1382435156
NM_000551.3(VHL):c.463+37_463+39del rs869025658
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.463+9G>A rs1057522720
NM_000551.3(VHL):c.464-10G>A rs552930903
NM_000551.3(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.3(VHL):c.522T>C (p.Asn174=) rs1057523911
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.540C>T (p.Ile180=) rs374927292
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.555C>T (p.Tyr185=) rs864622109
NM_000551.3(VHL):c.561T>C (p.Asp187=) rs370769257
NM_000551.3(VHL):c.599G>A (p.Arg200Gln) rs754016774
NM_000551.3(VHL):c.601C>T (p.Leu201=) rs786201557
NM_000551.3(VHL):c.612G>A (p.Glu204=) rs747805018
NM_000551.3(VHL):c.614G>A (p.Arg205His) rs777130107
NM_000551.3(VHL):c.618T>C (p.Ile206=) rs1575932691
NM_000551.3(VHL):c.627A>G (p.Gln209=) rs758494789
NM_000551.3(VHL):c.629G>A (p.Arg210Gln) rs138780791
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944
NM_000551.4(VHL):c.340+578C>T
NM_000551.4(VHL):c.340+621T>C
NM_000551.4(VHL):c.340+686_340+687del
NM_000551.4(VHL):c.341-8C>T
NM_000551.4(VHL):c.354C>T (p.Leu118=)
NM_000551.4(VHL):c.357C>T (p.Phe119=)
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.387G>C (p.Leu129=) rs778846471
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.447C>T (p.Ala149=)
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.471T>C (p.Thr157=) rs1252473811
NM_000551.4(VHL):c.474G>T (p.Leu158=) rs1575932005
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.498C>T (p.Val166=)
NM_000551.4(VHL):c.501G>C (p.Arg167=)
NM_000551.4(VHL):c.516T>G (p.Pro172=) rs1575932227
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.588A>G (p.Lys196=)
NM_000551.4(VHL):c.591C>T (p.Asp197=) rs1575932584
NM_000551.4(VHL):c.594G>A (p.Leu198=)
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599
NM_000551.4(VHL):c.597G>A (p.Glu199=) rs1387975369
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.606A>G (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.630G>A (p.Arg210=) rs1575932755
NM_001354723.2(VHL):c.*133T>C rs1060503558
NM_001354723.2(VHL):c.*61A>C rs878854126
NM_198156.3(VHL):c.*923_*927GTTTT[5] rs544983652
NM_198156.3(VHL):c.341-3203G>C rs1553619969
NM_198156.3(VHL):c.341-3229C>T rs369018004

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