ClinVar Miner

List of variants studied for cone-rod dystrophy by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121

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