ClinVar Miner

List of variants studied for Noonan syndrome 4 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.512T>G (p.Val171Gly) rs397517174

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