ClinVar Miner

List of variants in gene GP1BA reported as likely pathogenic for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln) rs749454966 0.00004
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) rs760759446 0.00003
NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter) rs1375190381 0.00001
NM_000173.7(GP1BA):c.247C>T (p.Leu83Phe) rs767224320 0.00001
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) rs773663190
NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer) rs1172767977
NM_000173.7(GP1BA):c.1480del (p.Thr494fs) rs759573909
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) rs763978422
NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) rs2151107705
NM_000173.7(GP1BA):c.1951dup (p.Ser651fs) rs1597640885
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) rs1597638598
NM_000173.7(GP1BA):c.407T>C (p.Leu136Pro) rs1597638681
NM_000173.7(GP1BA):c.413G>T (p.Gly138Val) rs1970365829
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser) rs1597638745
NM_000173.7(GP1BA):c.470dup (p.Gly158fs) rs1597638753
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) rs1394634674
NM_000173.7(GP1BA):c.745G>A (p.Gly249Ser) rs1597639057
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr) rs1597638300

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