ClinVar Miner

List of variants reported as likely pathogenic for Anauxetic dysplasia

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ClinVar version:
Total variants: 7
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HGVS dbSNP
NR_003051.3(RMRP):n.-21_-9dup rs751921616
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-25_-13dup rs1554651508
NR_003051.3(RMRP):n.-33_3dup
NR_003051.3(RMRP):n.-5delins17
NR_003051.3(RMRP):n.97_98dup rs1340624774
NR_003051.3(RMRP):r.147G>A rs753874439

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