ClinVar Miner

List of variants reported as pathogenic for anauxetic dysplasia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000009.12:g.(?_35657741)_(35658028_?)del
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-25_-12dup rs1554651499
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.219A>G rs936059863
NR_003051.3(RMRP):n.243A>G rs551450545
NR_003051.3(RMRP):n.263G>T rs727502774
NR_003051.3(RMRP):n.5C>T rs772443941
NR_003051.3(RMRP):n.64C>T rs786204684
NR_003051.3(RMRP):n.71A>G rs199476103
NR_003051.3(RMRP):n.91_92delinsGC rs387906533
RMRP, 10-BP DEL, NT254
RMRP, 14-BP INS, NT111
RMRP, 14G-A
RMRP, 254C-G

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