ClinVar Miner

List of variants in gene RASGRP2 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: 8
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HGVS dbSNP gnomAD frequency
NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro) rs200434813
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs) rs774996406
NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs) rs1555122100
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs) rs752492512
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001098671.2(RASGRP2):c.742G>C (p.Gly248Arg) rs587777529
NM_001098671.2(RASGRP2):c.887G>A (p.Cys296Tyr) rs2135765010
NM_001098671.2(RASGRP2):c.914G>A (p.Gly305Asp) rs1592371840

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