ClinVar Miner

List of variants reported as pathogenic for Silver-Russell syndrome by Centre de Recherche Saint Antoine, Université Pierre et Marie Curie

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000612.6(IGF2):c.157+1_157+2insGC rs1114167321
NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter) rs1064794050
NM_002655.3(PLAG1):c.1363del (p.Gln455fs) rs1114167318
NM_002655.3(PLAG1):c.439del (p.Ser147fs) rs1114167317
NM_003483.6(HMGA2):c.189del (p.Ala64fs) rs1114167320
NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter) rs1114167319

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