ClinVar Miner

List of variants in gene RMRP reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NR_003051.3(RMRP):n.-19_-13dup rs1554651506 0.00005
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_003051.3(RMRP):n.-19_-3dup rs727502778
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.216A>C rs886041234
NR_003051.4(RMRP):n.264G>C rs727502774
NR_003051.4(RMRP):n.97_98dup rs1340624774
NR_003051.4(RMRP):n.99G>A rs915919453

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