ClinVar Miner

List of variants reported as uncertain significance for RASopathy by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000267.3(NF1):c.6277G>T (p.Gly2093Cys) rs1567617070
NM_002755.3(MAP2K1):c.370C>A (p.Pro124Thr)
NM_004985.5(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_005633.3(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007

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