ClinVar Miner

List of variants studied for RECON progeroid syndrome by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) rs777214281 0.00013
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) rs145067169 0.00013
NM_002907.4(RECQL):c.394+1G>A rs1237988770 0.00001

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