ClinVar Miner

List of variants reported as uncertain significance for RASopathy by GeneDx

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_002834.4(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_004333.6(BRAF):c.83_88GCGCCG[1] (p.28_29GA[1]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[4] (p.28_29GA[4]) rs397507458
NM_030662.3(MAP2K2):c.22del (p.Val8fs) rs730880519
NM_030662.3(MAP2K2):c.71del (p.Pro24fs) rs730880525

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