ClinVar Miner

Variants in gene RMRP with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.97_98dup rs1340624774

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