ClinVar Miner

List of variants reported as benign for RASopathy by GeneDx

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_002755.3(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002834.4(PTPN11):c.*33-17_*33-13del rs730880991
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.132C>A (p.Ser44=) rs397507502
NM_002834.4(PTPN11):c.332+17T>G rs115658366
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.486C>T (p.Asp162=) rs397507522
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.879C>T (p.His293=) rs117730996
NM_002834.4(PTPN11):c.933+11C>T rs397507532
NM_002834.4(PTPN11):c.990A>C (p.Thr330=) rs369739920
NM_002834.4(PTPN11):c.996C>T (p.Gly332=) rs397507533
NM_002880.3(RAF1):c.1108+9_1108+21delGGGGCCCTCCCTT rs727504451
NM_004333.6(BRAF):c.-18C>G rs397507453
NM_004333.6(BRAF):c.-19C>T rs71645935
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463
NM_004333.6(BRAF):c.753T>C (p.Cys251=) rs397507468
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_005188.2:c.1227+20insC
NM_005188.2:c.1228-10insT
NM_005188.3(CBL):c.107_109ACC[6] (p.His42del) rs373212940
NM_005188.3(CBL):c.1095+19G>T rs2510152
NM_005188.3(CBL):c.1227+4C>T rs201747825
NM_005188.3(CBL):c.869+19A>G rs181589369
NM_005188.3(CBL):c.869+4A>G rs77284821
NM_005633.3(SOS1):c.345+12_345+13dupCT rs397517167
NM_005633.3:c.1-36_1-34delGCC
NM_007373.3(SHOC2):c.973-5delT rs730881016
NM_030662.3(MAP2K2):c.-18_-16delCCG rs397517411

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