ClinVar Miner

List of variants studied for Stankiewicz-Isidor syndrome by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002816.5(PSMD12):c.881A>G (p.Lys294Arg) rs201685625 0.00017
NM_002816.5(PSMD12):c.1164_1166delinsTTT (p.Glu388_Ser389delinsAspPhe) rs2509678235
NM_002816.5(PSMD12):c.1342A>G (p.Lys448Glu) rs2509677961

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