ClinVar Miner

List of variants in gene THPO reported as uncertain significance for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000460.4(THPO):c.-56G>A rs187556243 0.00053
NM_000460.4(THPO):c.*366G>C rs542821225 0.00047
NM_000460.4(THPO):c.*404G>A rs573846929 0.00013
NM_000460.4(THPO):c.579C>T (p.Asn193=) rs202166253 0.00010
NM_000460.4(THPO):c.889A>G (p.Thr297Ala) rs530613857 0.00010
NM_000460.4(THPO):c.*27A>G rs201864435 0.00009
NM_000460.4(THPO):c.*480G>A rs778078910 0.00006
NM_000460.4(THPO):c.-215T>A rs886058219 0.00004
NM_000460.4(THPO):c.963C>T (p.His321=) rs377138170 0.00004
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378 0.00003
NM_000460.4(THPO):c.14-11C>T rs745850672 0.00001
NM_000460.4(THPO):c.303A>G (p.Gln101=) rs775232517 0.00001
NM_000460.4(THPO):c.518T>C (p.Val173Ala) rs768776540 0.00001
NM_000460.4(THPO):c.796C>T (p.Arg266Cys) rs186070598 0.00001
NM_000460.4(THPO):c.808G>A (p.Gly270Arg) rs759569299 0.00001
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu) rs1208732776 0.00001
NM_000460.4(THPO):c.*108C>T rs1353316698
NM_000460.4(THPO):c.*191T>G rs1713957283
NM_000460.4(THPO):c.*500A>G rs886058217
NM_000460.4(THPO):c.-123C>T rs535707667
NM_000460.4(THPO):c.114del (p.Asp39fs) rs768078445
NM_000460.4(THPO):c.13G>A (p.Glu5Lys) rs1460650949
NM_000460.4(THPO):c.233A>G (p.Glu78Gly) rs1447030119
NM_000460.4(THPO):c.482G>A (p.Arg161His)
NM_000460.4(THPO):c.517G>A (p.Val173Ile) rs780992873
NM_000460.4(THPO):c.610dup (p.Glu204fs) rs776536238
NM_000460.4(THPO):c.671G>A (p.Gly224Glu) rs886058218
NM_000460.4(THPO):c.740T>C (p.Leu247Pro) rs749011920
NM_000460.4(THPO):c.791_794del (p.Pro264fs) rs760659440

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