ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome and Noonan-related syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (67):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
NM_002834.5(PTPN11):c.841A>G (p.Asn281Asp)
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly) rs2037994433
NM_004333.6(BRAF):c.1475_1477del (p.Pro492del) rs1800500908
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_006912.6(RIT1):c.268A>C (p.Met90Leu) rs1557960039
NM_152594.3(SPRED1):c.472C>T (p.Gln158Ter) rs2542723680

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