ClinVar Miner

List of variants in gene RMRP reported as pathogenic for Anauxetic dysplasia 1

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.256C>G rs1170858087 0.00001
NR_003051.4(RMRP):n.113_114insACGTAGACATTCCT rs1823615821
NR_003051.4(RMRP):n.16G>A rs902313238
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.92_93delAGinsGC rs387906533

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