ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) rs397516802
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_006767.4(LZTR1):c.102_105del (p.Cys34fs)
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194

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