ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome with multiple lentigines by Phosphorus, Inc.

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506
NM_002834.4(PTPN11):c.1599+4C>A rs142606486
NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825

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