ClinVar Miner

List of variants studied for Noonan syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp) rs745812984 0.00001
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.427A>G (p.Lys143Glu) rs1671228827
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_006767.4(LZTR1):c.295G>T (p.Asp99Tyr)
NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu) rs2147962674
NM_006912.6(RIT1):c.268A>C (p.Met90Leu) rs1557960039
NM_012250.6(RRAS2):c.560C>G (p.Pro187Arg)

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