ClinVar Miner

List of variants studied for cartilage-hair hypoplasia by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.35658030T>G rs372044910 0.00058
NC_000009.12:g.35657749A>G rs551655682 0.00021
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NC_000009.12:g.35657748A>G rs377349293 0.00007
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NC_000009.12:g.35658031_35658037dup rs1554651506 0.00005
NR_003051.4(RMRP):n.37C>A rs549085067 0.00005
NR_003051.3(RMRP):n.-25_-3dup rs1554651413 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_003051.4(RMRP):n.146C>T rs759632477 0.00003
NC_000009.12:g.35658024_35658040dup rs727502777 0.00002
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA rs781730798 0.00002
NR_003051.4(RMRP):n.215C>T rs772665785 0.00002
NC_000009.12:g.35657948_35657949del rs1491544612 0.00001
NC_000009.12:g.35658020_35658038dup rs1554651404 0.00001
NC_000009.12:g.35658024_35658041dup rs1554651453 0.00001
NC_000009.12:g.35658028_35658041dup rs1554651489 0.00001
NR_003051.3(RMRP):n.-13_-7dup7 rs1554651462 0.00001
NR_003051.3(RMRP):n.-15delT rs1554651530 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-19_-12dup8 rs1554651505 0.00001
NR_003051.3(RMRP):n.-20_-18delCTC rs1210447003 0.00001
NR_003051.3(RMRP):n.-20_-18dupCTC rs1554651542 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-23_-5dup19 rs1554651428 0.00001
NR_003051.3(RMRP):n.-25_-8dup18 rs1554651473 0.00001
NR_003051.3(RMRP):n.-2_6dup8 rs1169511671 0.00001
NR_003051.3(RMRP):n.-7delA rs911564838 0.00001
NR_003051.4(RMRP):n.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.122_124dup rs1240755048 0.00001
NR_003051.4(RMRP):n.130C>T rs1335579840 0.00001
NR_003051.4(RMRP):n.256C>G rs1170858087 0.00001
NR_003051.4(RMRP):n.263C>G rs533294975 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NR_003051.4(RMRP):n.67delA rs1317019943 0.00001
NC_000009.12:g.35657873G>A rs757576534
NC_000009.12:g.35658020_35658037dup rs1554651396
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658032_35658045dup rs1554651499
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000009.12:g.35658072A>T rs181777676
NR_003051.3(RMRP):n.-10_-5dup6 rs1554651437
NR_003051.3(RMRP):n.-11_-2dup10 rs1587919129
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-13_-4dup10 rs1554651424
NR_003051.3(RMRP):n.-14_-13dupGA rs1554651511
NR_003051.3(RMRP):n.-15_-14delTG rs1554651515
NR_003051.3(RMRP):n.-17_-15dupTGT rs1554651531
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
NR_003051.3(RMRP):n.-18_-2dup17 rs1587919165
NR_003051.3(RMRP):n.-18_-7dup12 rs1554651466
NR_003051.3(RMRP):n.-18_-8dup11 rs1230629953
NR_003051.3(RMRP):n.-18_-9dup10 rs1554651481
NR_003051.3(RMRP):n.-19_1dup20 rs1554651382
NR_003051.3(RMRP):n.-1_1ins16 rs1554651395
NR_003051.3(RMRP):n.-1_1ins21 rs1218494857
NR_003051.3(RMRP):n.-1_1ins22 rs1554651397
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-3dup rs1554651418
NR_003051.3(RMRP):n.-21_-12dup10 rs1554651503
NR_003051.3(RMRP):n.-21_-17dup5 rs1472119885
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-21_-6dup16 rs1554651451
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-23_-7dup17 rs920074067
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-24_-3dup22 rs1554651411
NR_003051.3(RMRP):n.-25_-14dup12 rs1554651526
NR_003051.3(RMRP):n.-25_-24delTA rs1160072325
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-29_-23del7 rs1554651555
NR_003051.3(RMRP):n.-30_-21del10 rs1554651552
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-4A>G rs555890962
NR_003051.3(RMRP):n.-50delA rs1168028338
NR_003051.3(RMRP):n.-50dupA rs1168028338
NR_003051.3(RMRP):n.-55delA rs1554651600
NR_003051.3(RMRP):n.-57_-54delTCATinsCCA rs1554651593
NR_003051.3(RMRP):n.-5_6dup11 rs1554651348
NR_003051.3(RMRP):n.-73_-71delCCA rs1587920033
NR_003051.3(RMRP):n.-7_-6ins16 rs1554651461
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):n.-7_2dup9 rs1554651365
NR_003051.3(RMRP):n.-8_-7ins15 rs1230629953
NR_003051.3(RMRP):n.-8_-7ins17 rs1554651469
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.1_2ins13 rs1554651368
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.3_4ins10 rs759665242
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.-23_-14dup rs1554651532
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG rs1554651471
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.116_117insCC rs1554651212
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.13_14insT rs1554651339
NR_003051.4(RMRP):n.141dup rs1554651181
NR_003051.4(RMRP):n.149C>T rs1085307765
NR_003051.4(RMRP):n.154A>C rs1428585182
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.178_179GC[3] rs1554651154
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.184G>T rs1554651153
NR_003051.4(RMRP):n.196_204delTCAGCTCCC rs1554651129
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.237_242delCAACCA rs1554651106
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.245C>T rs1260135124
NR_003051.4(RMRP):n.250C>T rs1554651104
NR_003051.4(RMRP):n.256C>A rs1170858087
NR_003051.4(RMRP):n.25_43del19 rs1554651292
NR_003051.4(RMRP):n.2_6dup rs1554651347
NR_003051.4(RMRP):n.37_38delCT rs1554651307
NR_003051.4(RMRP):n.45delT rs1554651291
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.66T>A rs1357036842
NR_003051.4(RMRP):n.71_72dup rs1554651256
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.99_101delGCC rs1554651230

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