ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506
NM_002834.4(PTPN11):c.1599+4C>A rs142606486
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438

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