ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome by Molecular Genetics, Centre for Human Genetics

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.741T>A (p.Phe247Leu)
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
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.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370

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