ClinVar Miner

List of variants reported as pathogenic for RASopathy by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (83):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_001042492.3(NF1):c.226G>T (p.Glu76Ter)
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.4818_4822del (p.Phe1606fs) rs1555619413
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806

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