ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NR_003051.3(RMRP):n.-13_-6dup rs1563907946
NR_003051.3(RMRP):n.-15_-8dup
NR_003051.3(RMRP):n.-20_-2dup rs1554651404
NR_003051.3(RMRP):n.-20_2dup
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-13dup rs1554651507
NR_003051.3(RMRP):n.-22_-14dup
NR_003051.3(RMRP):n.-22_-1dup
NR_003051.3(RMRP):n.-23_-10dup rs1554651489
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-12dup rs781730798
NR_003051.3(RMRP):n.-24_-17dup
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-25_-13dup rs1554651508
NR_003051.3(RMRP):n.-25_-3dup rs1554651413
NR_003051.3(RMRP):n.-30_-7dup
NR_003051.3(RMRP):n.-33_3dup rs1563907686
NR_003051.3(RMRP):n.-5delins17
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.196C>T rs948931144
NR_003051.3(RMRP):n.243A>G rs551450545
NR_003051.3(RMRP):n.64C>T rs786204684
NR_003051.3(RMRP):n.97_98dup rs1340624774

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