ClinVar Miner

List of variants reported as uncertain significance for blood coagulation disease by Laboratory of Hematology, Radboud University Medical Center

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_000552.5(VWF):c.706C>T (p.Arg236Cys) rs140912382 0.00014
NM_000552.5(VWF):c.2878C>T (p.Arg960Trp) rs370984712 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000552.5(VWF):c.2442+4A>G rs777608246 0.00001
NM_000552.5(VWF):c.1600G>A (p.Asp534Asn) rs1651544859
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.4265T>G (p.Leu1422Arg) rs2136412830
NM_000552.5(VWF):c.4277G>C (p.Arg1426Pro) rs761308466
NM_000552.5(VWF):c.4549A>C (p.Ser1517Arg) rs2136412356
NM_000552.5(VWF):c.4637T>A (p.Val1546Glu) rs1591862366
NM_000552.5(VWF):c.4960T>A (p.Phe1654Ile) rs2136411544
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys) rs779764302
NM_000552.5(VWF):c.722T>G (p.Val241Gly) rs2136474453

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