ClinVar Miner

List of variants studied for Meier-Gorlin syndrome 1 by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln) rs142127656 0.00080
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004153.4(ORC1):c.403-2A>C rs2147941262

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