ClinVar Miner

List of variants studied for blood platelet disease by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_014915.3(ANKRD26):c.425C>T (p.Ala142Val) rs768779673 0.00041
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser) rs201638257 0.00039
NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly) rs368705077 0.00024
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln) rs200351280 0.00009
NM_014915.3(ANKRD26):c.1166A>G (p.Asn389Ser) rs372397062 0.00005
NM_014915.3(ANKRD26):c.4249G>C (p.Gly1417Arg) rs764763153 0.00005
NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter) rs780613456 0.00002
NM_014915.3(ANKRD26):c.1858A>G (p.Lys620Glu) rs112661579 0.00002
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_014915.3(ANKRD26):c.4006A>G (p.Met1336Val) rs777101648 0.00001
NM_001987.5(ETV6):c.1113_1120delinsCCCCCCAC (p.Asp372_Asn374delinsProProHis) rs2136596195
NM_001987.5(ETV6):c.1196G>A (p.Arg399His) rs2136602321
NM_004972.4(JAK2):c.2755A>T (p.Ser919Cys)
NM_014915.3(ANKRD26):c.1495A>G (p.Thr499Ala)
NM_014915.3(ANKRD26):c.1636-8del
NM_014915.3(ANKRD26):c.1756A>G (p.Lys586Glu)
NM_014915.3(ANKRD26):c.2053G>A (p.Asp685Asn)
NM_014915.3(ANKRD26):c.2405_2409del (p.Arg802fs)
NM_014915.3(ANKRD26):c.320A>G (p.Asn107Ser) rs756157730
NM_014915.3(ANKRD26):c.3692C>G (p.Thr1231Ser) rs751964173
NM_014915.3(ANKRD26):c.3841G>A (p.Val1281Ile)
NM_014915.3(ANKRD26):c.4684G>A (p.Glu1562Lys)
NM_014915.3(ANKRD26):c.4725-10A>G
NM_014915.3(ANKRD26):c.475A>T (p.Ile159Leu)
NM_014915.3(ANKRD26):c.5107G>A (p.Val1703Ile)
NM_014915.3(ANKRD26):c.821C>G (p.Pro274Arg)

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