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: 130
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HGVS dbSNP
NC_000009.11:g.(?_34645556)_(36277059_?)dup
NR_003051.3(RMRP):n.-10C>A
NR_003051.3(RMRP):n.-10C>G
NR_003051.3(RMRP):n.-11G>A rs545020206
NR_003051.3(RMRP):n.-12A>G
NR_003051.3(RMRP):n.-15T>C rs765292137
NR_003051.3(RMRP):n.-18C>G rs775303012
NR_003051.3(RMRP):n.-20C>T rs183974004
NR_003051.3(RMRP):n.-21A>C rs563106486
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-22T>C
NR_003051.3(RMRP):n.-24A>C
NR_003051.3(RMRP):n.-24A>T rs529852688
NR_003051.3(RMRP):n.-25_-21dup
NR_003051.3(RMRP):n.-26A>G
NR_003051.3(RMRP):n.-2G>A rs958637129
NR_003051.3(RMRP):n.-31A>G rs145463993
NR_003051.3(RMRP):n.-34G>C
NR_003051.3(RMRP):n.-3_1dupCGTG
NR_003051.3(RMRP):n.-4A>G rs555890962
NR_003051.3(RMRP):n.-4A>T
NR_003051.3(RMRP):n.-53A>G rs551474332
NR_003051.3(RMRP):n.-54T>A rs181777676
NR_003051.3(RMRP):n.-57T>A
NR_003051.3(RMRP):n.-58_-57delinsCC
NR_003051.3(RMRP):n.-58_-57delinsGC rs1587919975
NR_003051.3(RMRP):n.-5G>T rs7024732
NR_003051.3(RMRP):n.-6G>C
NR_003051.3(RMRP):n.-6G>T
NR_003051.3(RMRP):n.-71C>T
NR_003051.3(RMRP):n.-77C>T
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.-88dup rs1052348382
NR_003051.3(RMRP):n.-96G>A
NR_003051.3(RMRP):n.100C>G
NR_003051.3(RMRP):n.101A>G
NR_003051.3(RMRP):n.101_104del
NR_003051.3(RMRP):n.111G>A rs1031995271
NR_003051.3(RMRP):n.112C>T rs1479610947
NR_003051.3(RMRP):n.114C>G rs769331218
NR_003051.3(RMRP):n.114C>T
NR_003051.3(RMRP):n.114_115insA
NR_003051.3(RMRP):n.114_115insCC
NR_003051.3(RMRP):n.115G>A rs747605028
NR_003051.3(RMRP):n.118_119del
NR_003051.3(RMRP):n.120C>T rs549849356
NR_003051.3(RMRP):n.121A>G
NR_003051.3(RMRP):n.121_123dup rs1240755048
NR_003051.3(RMRP):n.121_124del
NR_003051.3(RMRP):n.124C>A rs758130879
NR_003051.3(RMRP):n.126C>T
NR_003051.3(RMRP):n.133_134insT
NR_003051.3(RMRP):n.135A>G
NR_003051.3(RMRP):n.138C>T rs928825069
NR_003051.3(RMRP):n.139C>T
NR_003051.3(RMRP):n.139dup
NR_003051.3(RMRP):n.13A>C
NR_003051.3(RMRP):n.143G>C rs113967059
NR_003051.3(RMRP):n.145C>T rs759632477
NR_003051.3(RMRP):n.146C>A
NR_003051.3(RMRP):n.146C>G rs757576534
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.3(RMRP):n.147G>C
NR_003051.3(RMRP):n.147G>T
NR_003051.3(RMRP):n.149C>T rs977992022
NR_003051.3(RMRP):n.159A>G rs535595484
NR_003051.3(RMRP):n.159_175dup rs1587918082
NR_003051.3(RMRP):n.162C>T rs370797103
NR_003051.3(RMRP):n.164G>A
NR_003051.3(RMRP):n.16C>T
NR_003051.3(RMRP):n.171G>A
NR_003051.3(RMRP):n.173C>T
NR_003051.3(RMRP):n.174G>T
NR_003051.3(RMRP):n.180dup rs940080676
NR_003051.3(RMRP):n.181G>C rs1004469515
NR_003051.3(RMRP):n.185G>T rs908555769
NR_003051.3(RMRP):n.185del rs1563906794
NR_003051.3(RMRP):n.186C>T
NR_003051.3(RMRP):n.193C>T
NR_003051.3(RMRP):n.195T>C
NR_003051.3(RMRP):n.195dup rs796065036
NR_003051.3(RMRP):n.19G>C rs910861550
NR_003051.3(RMRP):n.1G>A rs773520232
NR_003051.3(RMRP):n.201C>T
NR_003051.3(RMRP):n.202C>T
NR_003051.3(RMRP):n.203C>T
NR_003051.3(RMRP):n.209T>C
NR_003051.3(RMRP):n.213G>A
NR_003051.3(RMRP):n.215A>G rs886041234
NR_003051.3(RMRP):n.222G>C
NR_003051.3(RMRP):n.229C>A
NR_003051.3(RMRP):n.232G>A rs774897161
NR_003051.3(RMRP):n.233C>T rs1193906088
NR_003051.3(RMRP):n.238_241del rs1554651108
NR_003051.3(RMRP):n.239C>T rs749667892
NR_003051.3(RMRP):n.241A>C
NR_003051.3(RMRP):n.246G>A rs1345047056
NR_003051.3(RMRP):n.24C>T
NR_003051.3(RMRP):n.257_266del rs1383432106
NR_003051.3(RMRP):n.264G>A rs578123788
NR_003051.3(RMRP):n.265C>T
NR_003051.3(RMRP):n.266T>C
NR_003051.3(RMRP):n.26A>G rs1554651331
NR_003051.3(RMRP):n.2G>C
NR_003051.3(RMRP):n.35A>G rs572081363
NR_003051.3(RMRP):n.36C>A rs549085067
NR_003051.3(RMRP):n.36C>G rs549085067
NR_003051.3(RMRP):n.36C>T rs549085067
NR_003051.3(RMRP):n.45C>T rs1394104178
NR_003051.3(RMRP):n.46T>C rs529328233
NR_003051.3(RMRP):n.55C>T
NR_003051.3(RMRP):n.56C>A
NR_003051.3(RMRP):n.56C>G
NR_003051.3(RMRP):n.58_59insA rs1053360711
NR_003051.3(RMRP):n.5C>A
NR_003051.3(RMRP):n.62G>A rs544069410
NR_003051.3(RMRP):n.66A>G rs530883024
NR_003051.3(RMRP):n.67G>A rs1235939791
NR_003051.3(RMRP):n.72A>G rs1554651251
NR_003051.3(RMRP):n.7T>G rs587781140
NR_003051.3(RMRP):n.83C>G
NR_003051.3(RMRP):n.84dup
NR_003051.3(RMRP):n.86C>G
NR_003051.3(RMRP):n.88G>A
NR_003051.3(RMRP):n.89G>A
NR_003051.3(RMRP):n.89_96dup
NR_003051.3(RMRP):n.91A>C
NR_003051.3(RMRP):n.93A>C
NR_003051.3(RMRP):n.96G>A rs970510851
NR_003051.3(RMRP):n.9C>T

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