ClinVar Miner

List of variants studied for anauxetic dysplasia 1 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NC_000009.11:g.(?_34645556)_(36277059_?)dup
NR_003051.3(RMRP):n.-10C>T
NR_003051.3(RMRP):n.-11G>A
NR_003051.3(RMRP):n.-13_-6dup rs1563907946
NR_003051.3(RMRP):n.-15T>C
NR_003051.3(RMRP):n.-15_-8dup
NR_003051.3(RMRP):n.-18C>G
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.3(RMRP):n.-20C>T
NR_003051.3(RMRP):n.-20_-2dup rs1554651404
NR_003051.3(RMRP):n.-20_2dup
NR_003051.3(RMRP):n.-21A>C
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
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.-23C>G rs188660894
NR_003051.3(RMRP):n.-23_-10dup rs1554651489
NR_003051.3(RMRP):n.-24A>T
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.-26_1dup rs1554651385
NR_003051.3(RMRP):n.-2G>A rs958637129
NR_003051.3(RMRP):n.-30_-7dup
NR_003051.3(RMRP):n.-31A>G
NR_003051.3(RMRP):n.-33_3dup rs1563907686
NR_003051.3(RMRP):n.-53A>G
NR_003051.3(RMRP):n.-54T>A rs181777676
NR_003051.3(RMRP):n.-55A>G rs12551232
NR_003051.3(RMRP):n.-57T>C rs3829077
NR_003051.3(RMRP):n.-58_-57delinsGC
NR_003051.3(RMRP):n.-5G>T
NR_003051.3(RMRP):n.-5delins17
NR_003051.3(RMRP):n.-7A>G rs111909453
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.-88dup
NR_003051.3(RMRP):n.-9T>G rs12552387
NR_003051.3(RMRP):n.111G>A rs1031995271
NR_003051.3(RMRP):n.112C>T rs1479610947
NR_003051.3(RMRP):n.114C>G
NR_003051.3(RMRP):n.115G>A
NR_003051.3(RMRP):n.120C>T
NR_003051.3(RMRP):n.121_123dup rs1240755048
NR_003051.3(RMRP):n.128G>C rs74810894
NR_003051.3(RMRP):n.138C>T
NR_003051.3(RMRP):n.140A>G rs578091934
NR_003051.3(RMRP):n.143G>C
NR_003051.3(RMRP):n.145C>T rs759632477
NR_003051.3(RMRP):n.146C>G
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.149C>T
NR_003051.3(RMRP):n.159A>G rs535595484
NR_003051.3(RMRP):n.159_175dup
NR_003051.3(RMRP):n.162C>T
NR_003051.3(RMRP):n.176G>A rs377566038
NR_003051.3(RMRP):n.180dup rs940080676
NR_003051.3(RMRP):n.181G>C rs1004469515
NR_003051.3(RMRP):n.185G>T
NR_003051.3(RMRP):n.185del
NR_003051.3(RMRP):n.195dup rs796065036
NR_003051.3(RMRP):n.196C>T rs948931144
NR_003051.3(RMRP):n.19G>C
NR_003051.3(RMRP):n.1G>A rs773520232
NR_003051.3(RMRP):n.215A>G
NR_003051.3(RMRP):n.219A>G
NR_003051.3(RMRP):n.231C>T
NR_003051.3(RMRP):n.232G>A
NR_003051.3(RMRP):n.233C>T rs1193906088
NR_003051.3(RMRP):n.238_241del rs1554651108
NR_003051.3(RMRP):n.239C>T
NR_003051.3(RMRP):n.243A>G rs551450545
NR_003051.3(RMRP):n.246G>A
NR_003051.3(RMRP):n.257_266del rs1383432106
NR_003051.3(RMRP):n.264G>A rs578123788
NR_003051.3(RMRP):n.268T>C rs572399988
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>G
NR_003051.3(RMRP):n.36C>T rs549085067
NR_003051.3(RMRP):n.45C>T
NR_003051.3(RMRP):n.46T>A rs529328233
NR_003051.3(RMRP):n.46T>C
NR_003051.3(RMRP):n.54C>T rs193117694
NR_003051.3(RMRP):n.58_59insA
NR_003051.3(RMRP):n.5C>T rs772443941
NR_003051.3(RMRP):n.62G>A rs544069410
NR_003051.3(RMRP):n.64C>T rs786204684
NR_003051.3(RMRP):n.66A>G rs530883024
NR_003051.3(RMRP):n.67G>A
NR_003051.3(RMRP):n.71A>G rs199476103
NR_003051.3(RMRP):n.7T>G rs587781140
NR_003051.3(RMRP):n.96G>A
NR_003051.3(RMRP):n.97_98dup rs1340624774

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