ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by GenomeConnect - CFC International

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001374258.1(BRAF):c.1526G>A (p.Gly509Glu) rs121913355
NM_001374258.1(BRAF):c.1905T>G (p.Phe635Leu) rs121913341
NM_001374258.1(BRAF):c.1907G>T (p.Gly636Val) rs397507483
NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) rs397507484
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_002755.3(MAP2K1):c.388T>A (p.Tyr130Asn)
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys)
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471

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