ClinVar Miner

List of variants in gene RASGRP2 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 12
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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.1490del (p.Phe497fs) rs752492512
NM_001098671.2(RASGRP2):c.239+2T>G rs2959650
NM_001098671.2(RASGRP2):c.372-3C>G rs781003927
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001098671.2(RASGRP2):c.704T>C (p.Leu235Pro) rs1592379014
NM_001098671.2(RASGRP2):c.773T>C (p.Leu258Pro) rs1592378730
NM_001098671.2(RASGRP2):c.814-16_814-5del rs1592372480
NM_001098671.2(RASGRP2):c.866A>G (p.Tyr289Cys) rs1592372097
NM_001098671.2(RASGRP2):c.914G>A (p.Gly305Asp) rs1592371840
NM_001098671.2(RASGRP2):c.999G>C (p.Lys333Asn) rs374345558

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