ClinVar Miner

List of variants in gene RMRP reported as benign for Anauxetic dysplasia

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.-47C>A rs3829076 0.46029
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NC_000009.12:g.35657744A>G rs71521283 0.17718
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NC_000009.12:g.35657733_35657802dup rs1563906333 0.00418
NR_003051.3(RMRP):n.-62C>A rs367843919 0.00089
NR_003051.3(RMRP):n.-12A>C rs372044910 0.00058
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.3(RMRP):n.-24A>G rs529852688
NR_003051.3(RMRP):n.-55A>G rs12551232
NR_003051.3(RMRP):n.-57T>C rs3829077
NR_003051.3(RMRP):n.-5G>A rs7024732
NR_003051.3(RMRP):n.268del rs549047941
NR_003051.4(RMRP):n.1T>C rs188190570
NR_003051.4(RMRP):n.54dup rs151011853

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