ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NM_000551.3(VHL):c.*1328C>A rs78562649
NM_000551.3(VHL):c.*1452A>T rs552760935
NM_000551.3(VHL):c.*1465C>A rs183067022
NM_000551.3(VHL):c.*1619T>C rs145608408
NM_000551.3(VHL):c.*1680T>C rs561087293
NM_000551.3(VHL):c.*1721C>G rs574191130
NM_000551.3(VHL):c.*1867A>G rs566885734
NM_000551.3(VHL):c.*1960G>A rs9822696
NM_000551.3(VHL):c.*1990G>A rs113678809
NM_000551.3(VHL):c.*2468C>T rs138237298
NM_000551.3(VHL):c.*2594C>A rs191582744
NM_000551.3(VHL):c.*2715C>T rs578053681
NM_000551.3(VHL):c.*2716G>A rs538719970
NM_000551.3(VHL):c.*3021T>C rs138933035
NM_000551.3(VHL):c.*303A>T rs573000980
NM_000551.3(VHL):c.*3352G>A rs112130915
NM_000551.3(VHL):c.*3395C>T rs184144719
NM_000551.3(VHL):c.*3492_*3493dup rs112494627
NM_000551.3(VHL):c.*3523T>G rs17610448
NM_000551.3(VHL):c.*3603C>T rs145137834
NM_000551.3(VHL):c.*523del rs546118793
NM_000551.3(VHL):c.*574T>C rs143062510
NM_000551.3(VHL):c.*724T>G rs13090104
NM_000551.3(VHL):c.*7C>A rs778005138
NM_000551.3(VHL):c.*820A>G rs182781943
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
NM_000551.3(VHL):c.341-216C>T
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.385C>T (p.Leu129=) rs369018004
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.411G>C (p.Val137=) rs1553619969
NM_000551.3(VHL):c.420C>A (p.Leu140=) rs369465430
NM_000551.3(VHL):c.426T>C (p.Val142=)
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+8C>T rs5030834
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.507A>C (p.Leu169=) rs878854126
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.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.579T>C (p.Asn193=) rs1060503558
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
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.618T>C (p.Ile206=)
NM_000551.3(VHL):c.627A>G (p.Gln209=) rs758494789
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944
NM_198156.3(VHL):c.*923_*927GTTTT[5] rs544983652

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