ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr) rs1321926273 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004985.5(KRAS):c.175_176delinsTT (p.Ala59Leu) rs2548920539
NM_005199.5(CHRNG):c.350+4A>G rs2469746850
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter) rs751308379
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_007373.4(SHOC2):c.598C>T (p.Arg200Cys) rs2493840265
NM_030662.4(MAP2K2):c.288CAT[1] (p.Ile97del) rs1555698652

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