ClinVar Miner

List of variants reported as likely pathogenic for RASopathy by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517

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