ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) rs397516895
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.4(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.768_770dup rs397507524
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_005633.3(SOS1):c.1653_1655del (p.Arg552del) rs1572830219

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