ClinVar Miner

List of variants reported as likely pathogenic for familial polycythemia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly) rs1354593943 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.160A>T (p.Met54Leu) rs1696125033
NM_000551.4(VHL):c.161T>G (p.Met54Arg)
NM_000551.4(VHL):c.162G>A (p.Met54Ile)
NM_000551.4(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.4(VHL):c.190C>A (p.Arg64Ser) rs1487408934
NM_000551.4(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.4(VHL):c.208G>C (p.Glu70Gln) rs5030802
NM_000551.4(VHL):c.220G>T (p.Val74Phe)
NM_000551.4(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.4(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.4(VHL):c.242C>A (p.Pro81Gln) rs193922608
NM_000551.4(VHL):c.245G>A (p.Arg82His) rs794726890
NM_000551.4(VHL):c.265C>T (p.Leu89Phe) rs1575922124
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.4(VHL):c.302T>C (p.Leu101Pro) rs1553619456
NM_000551.4(VHL):c.308C>T (p.Pro103Leu) rs2125125299
NM_000551.4(VHL):c.340+574A>T rs982745672
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.362A>T (p.Asp121Val) rs5030832
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr) rs2125128340
NM_000551.4(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.4(VHL):c.446C>T (p.Ala149Val) rs1696266503
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
NM_000551.4(VHL):c.460C>G (p.Pro154Ala) rs1553619993
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.563T>G (p.Leu188Arg) rs1559429824
NM_000551.4(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr) rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.575C>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.593T>A (p.Leu198Gln) rs869025667
NM_000551.4(VHL):c.599G>T (p.Arg200Leu) rs754016774
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
NM_000551.4(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)

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