ClinVar Miner

List of variants studied for Nizon-Isidor syndrome by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001393769.1(MED12L):c.1747dup (p.Ser583fs) rs1723551652
NM_001393769.1(MED12L):c.4479-1G>A rs1711989766
NM_001393769.1(MED12L):c.4791-1G>A rs1560108090

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