ClinVar Miner

List of variants studied for Noonan syndrome by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr) rs1668850707

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