ClinVar Miner

List of variants studied for Noonan syndrome by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822

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