ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.341-216C>T rs143057620 0.02748
NM_000551.4(VHL):c.464-94T>A rs116128787 0.01267
NM_000551.4(VHL):c.340+648T>C rs73024533 0.01009
NM_000551.4(VHL):c.341-246G>T rs149056499 0.00662
NM_000551.4(VHL):c.341-182C>T rs552624308 0.00640
NM_000551.4(VHL):c.463+256G>T rs143659897 0.00317
NM_000551.4(VHL):c.341-38C>T rs185858030 0.00084
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
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.464-10G>A rs552930903 0.00006
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.549G>A (p.Ser183=) rs193922614 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.*7C>A rs778005138 0.00001
NM_000551.4(VHL):c.341-10G>C rs140064807 0.00001
NM_000551.4(VHL):c.387G>T (p.Leu129=) rs778846471 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.463+12T>C rs1382435156 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.627A>G (p.Gln209=) rs758494789 0.00001
NM_000551.4(VHL):c.*1_*3del (p.Ter214=) rs1286603999
NM_000551.4(VHL):c.341-328_341-324dup rs367615363
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.463+37_463+39del rs869025658
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.522T>C (p.Asn174=) rs1057523911
NM_000551.4(VHL):c.601C>T (p.Leu201=) rs786201557
NM_000551.4(VHL):c.618T>C (p.Ile206=) rs1575932691

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