ClinVar Miner

List of variants studied for cerebellar ataxia-hypogonadism syndrome by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp)
NM_207111.4(RNF216):c.1del (p.Met1fs)
NM_207111.4(RNF216):c.54C>G (p.Cys18Trp)
NM_207111.4(RNF216):c.83G>A (p.Arg28Gln)

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