ClinVar Miner

List of variants studied for hematologic disorder by Department of Biosciences, University of Milan

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003260.5(TLE2):c.2114G>A (p.Ser705Asn) rs143713547 0.00863
NM_001401501.2(MUC16):c.27739T>C (p.Ser9247Pro) rs76869876 0.00816
NM_003260.5(TLE2):c.946G>A (p.Gly316Arg) rs201317355 0.00668
NM_006468.8(POLR3C):c.251G>A (p.Arg84Gln) rs115748902 0.00454
NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn) rs145312531 0.00429
NM_015117.3(ZC3H3):c.1646C>T (p.Ser549Leu) rs149025999 0.00340
NM_005462.5(MAGEC1):c.2T>C (p.Met1Thr) rs113574601 0.00322
NM_001183.6(ATP6AP1):c.539G>A (p.Arg180His) rs140841742 0.00241
NM_152274.5(CCNQ):c.338G>A (p.Arg113His) rs150562029 0.00241
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) rs145798898 0.00188
NM_004523.4(KIF11):c.77+5G>C rs200188195 0.00031
NM_001136018.4(EPHX1):c.1004C>T (p.Thr335Met) rs761149789 0.00006
NM_004523.4(KIF11):c.3053A>G (p.His1018Arg) rs147164679 0.00006
NM_001109659.2(C16orf92):c.128G>A (p.Arg43Lys) rs375771294 0.00001
NM_007183.4(PKP3):c.118C>T (p.Arg40Trp) rs1052027375 0.00001
NM_001161403.3(LIMS2):c.802+1G>A rs112942895
NM_001710.6(CFB):c.1942A>T (p.Lys648Ter) rs2151787951
NM_004284.6(CHD1L):c.1954G>A (p.Ala652Thr) rs2102907683
NM_006537.4(USP3):c.941T>G (p.Phe314Cys) rs2066822697

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