ClinVar Miner

List of variants in gene RMRP reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.-25_-7dup rs1554651455
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.4(RMRP):n.149C>T rs1085307765
NR_003051.4(RMRP):n.52C>T rs1064793373

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