ClinVar Miner

List of variants studied for PRPF31-related retinopathy by Juno Genomics, Hangzhou Juno Genomics, Inc

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_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) rs1342475527
NM_015629.4(PRPF31):c.1066G>A (p.Gly356Ser)
NM_015629.4(PRPF31):c.420+1G>A

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