ClinVar Miner

List of variants in gene RMRP reported as likely pathogenic for RMRP-related disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106

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