ClinVar Miner

List of variants reported as uncertain significance for anauxetic dysplasia 1 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NC_000009.12:g.(?_34645559)_(36277062_?)dup
NR_003051.3(RMRP):n.-10C>T
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.3(RMRP):n.-26_1dup rs1554651385
NR_003051.3(RMRP):n.-2G>A rs958637129
NR_003051.3(RMRP):n.111G>A rs1031995271
NR_003051.3(RMRP):n.112C>T
NR_003051.3(RMRP):n.114C>G
NR_003051.3(RMRP):n.115G>A
NR_003051.3(RMRP):n.138C>T
NR_003051.3(RMRP):n.140A>G rs578091934
NR_003051.3(RMRP):n.145C>T rs759632477
NR_003051.3(RMRP):n.159A>G rs535595484
NR_003051.3(RMRP):n.162C>T
NR_003051.3(RMRP):n.180dup rs940080676
NR_003051.3(RMRP):n.181G>C rs1004469515
NR_003051.3(RMRP):n.195dupT rs796065036
NR_003051.3(RMRP):n.1G>A rs773520232
NR_003051.3(RMRP):n.233C>T
NR_003051.3(RMRP):n.239C>T
NR_003051.3(RMRP):n.257_266delCAGCGCGGCT rs1383432106
NR_003051.3(RMRP):n.264G>A rs578123788
NR_003051.3(RMRP):n.26A>G rs1554651331
NR_003051.3(RMRP):n.35A>G
NR_003051.3(RMRP):n.36C>A rs549085067
NR_003051.3(RMRP):n.36C>T rs549085067
NR_003051.3(RMRP):n.62G>A rs544069410
NR_003051.3(RMRP):n.66A>G rs530883024
NR_003051.3(RMRP):n.7T>G rs587781140
NR_003051.3(RMRP):n.96G>A

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