ClinVar Miner

List of variants studied for RASopathy by GeneDx

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Total variants: 40
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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_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_004333.6(BRAF):c.-18C>G rs397507453 0.00006
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992 0.00002
NM_002524.5(NRAS):c.112-1_113dup rs730880967
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val) rs730880508
NM_002834.5(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) rs397509345
NM_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) rs397507508
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup) rs397507524
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_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1]) rs397507458
NM_004985.5(KRAS):c.184GAG[1] (p.Glu63del) rs730880469
NM_005188.2:c.1227+20insC
NM_005188.2:c.1227+2_1227+3delTACinsAAG
NM_005188.2:c.1228-10insT
NM_005188.4(CBL):c.1076_1087del (p.Asp359_Lys362del) rs397507490
NM_005188.4(CBL):c.107ACC[6] (p.His42del) rs373212940
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005188.4(CBL):c.1227+2_1227+4delinsAAG rs397507493
NM_005633.3:c.1-36_1-34delGCC
NM_005633.4(SOS1):c.1300_1301delinsAA (p.Gly434Lys) rs730881048
NM_007373.4(SHOC2):c.973-5del rs730881016
NM_030662.4(MAP2K2):c.-27CCG[3] rs397517411
NM_030662.4(MAP2K2):c.22del (p.Val8fs) rs730880519
NM_030662.4(MAP2K2):c.71del (p.Pro24fs) rs730880525

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