ClinVar Miner

List of variants in gene IGF2, INS-IGF2 studied for Silver-Russell syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000612.6(IGF2):c.-6-2A>G
NM_000612.6(IGF2):c.-6-2A>T
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_000612.6(IGF2):c.101G>A (p.Gly34Asp) rs1858937182
NM_000612.6(IGF2):c.106del (p.Glu36fs)
NM_000612.6(IGF2):c.110_117delinsAGGTAA (p.Leu37fs) rs1858936079
NM_000612.6(IGF2):c.157+1_157+2insGC rs1114167321
NM_000612.6(IGF2):c.157+3A>C rs1858932834
NM_000612.6(IGF2):c.195del (p.Ile66fs) rs1858779370
NM_000612.6(IGF2):c.199G>A (p.Val67Ile) rs1564894953
NM_000612.6(IGF2):c.23C>A (p.Ser8Ter) rs869320620
NM_000612.6(IGF2):c.243_244del (p.Glu81fs)
NM_000612.6(IGF2):c.27del (p.Met9fs) rs1858943428
NM_000612.6(IGF2):c.357G>A (p.Trp119Ter)
NM_000612.6(IGF2):c.59C>A (p.Ser20Ter) rs142012621
NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter) rs1064794050

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