ClinVar Miner

List of variants reported as benign for RASopathy by GeneDx

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_002834.5(PTPN11):c.332+17T>G rs115658366 0.00257
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_004333.6(BRAF):c.-18C>G rs397507453 0.00006
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002834.5(PTPN11):c.933+11C>T rs397507532
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_005188.2:c.1227+20insC
NM_005188.2:c.1228-10insT
NM_005188.4(CBL):c.107ACC[6] (p.His42del) rs373212940
NM_005633.3:c.1-36_1-34delGCC
NM_007373.4(SHOC2):c.973-5del rs730881016
NM_030662.4(MAP2K2):c.-27CCG[3] rs397517411

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