ClinVar Miner

List of variants reported as uncertain significance for Silver-Russell syndrome

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_003836.7(DLK1):c.194A>G (p.His65Arg) rs147224004 0.00051
NM_000612.6(IGF2):c.199G>A (p.Val67Ile) rs1564894953
NM_000612.6(IGF2):c.27del (p.Met9fs) rs1858943428
NM_002655.3(PLAG1):c.758dup (p.Phe254fs) rs2129224472
NM_003483.6(HMGA2):c.111+6T>A
NM_003836.7(DLK1):c.103G>C (p.Gly35Arg) rs762558665

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