ClinVar Miner

List of variants studied for cartilage-hair hypoplasia by Natera, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NC_000009.12:g.35658021G>A rs138660393 0.00185
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NC_000009.12:g.35658025T>C rs111909453 0.00057
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
NR_003051.4(RMRP):n.164C>T rs550203343 0.00022
NR_003051.4(RMRP):n.59_60insA rs1053360711 0.00021
NR_003051.4(RMRP):n.2G>A rs773520232 0.00019
NR_003051.4(RMRP):n.92A>C rs752723025 0.00017
NR_003051.4(RMRP):n.160A>G rs535595484 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NR_003051.4(RMRP):n.181dup rs940080676 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NC_000009.12:g.35658036G>C rs775303012 0.00014
NR_003051.4(RMRP):n.112G>A rs1031995271 0.00012
NR_003051.4(RMRP):n.90G>A rs780957606 0.00012
NR_003051.4(RMRP):n.67A>G rs530883024 0.00010
NR_003051.4(RMRP):n.121C>T rs549849356 0.00009
NC_000009.12:g.35658040A>G rs947939533 0.00008
NR_003051.4(RMRP):n.150C>T rs977992022 0.00008
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NR_003051.4(RMRP):n.51C>T rs1030486815 0.00007
NR_003051.4(RMRP):n.107_108insT rs775287390 0.00006
NR_003051.4(RMRP):n.116G>A rs747605028 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NR_003051.4(RMRP):n.56C>T rs1032219537 0.00006
NR_003051.4(RMRP):n.137C>T rs940224067 0.00005
NR_003051.4(RMRP):n.139C>T rs928825069 0.00005
NR_003051.4(RMRP):n.229C>T rs560328768 0.00005
NR_003051.4(RMRP):n.36A>G rs572081363 0.00005
NR_003051.3(RMRP):n.-25_-3dup rs1554651413 0.00004
NR_003051.4(RMRP):n.172G>A rs995230090 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NC_000009.12:g.35658039T>G rs563106486 0.00003
NC_000009.12:g.35658044T>C rs1479868789 0.00003
NR_003051.4(RMRP):n.140C>T rs746248517 0.00003
NR_003051.4(RMRP):n.146C>T rs759632477 0.00003
NR_003051.4(RMRP):n.187C>T rs1051076135 0.00003
NR_003051.4(RMRP):n.194C>T rs1045976155 0.00003
NR_003051.4(RMRP):n.204C>T rs964504772 0.00003
NR_003051.4(RMRP):n.206C>T rs925085494 0.00003
NR_003051.4(RMRP):n.214G>A rs145720742 0.00003
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA rs781730798 0.00002
NR_003051.4(RMRP):n.122A>G rs557578605 0.00002
NR_003051.4(RMRP):n.163C>T rs370797103 0.00002
NR_003051.4(RMRP):n.174C>T rs565056797 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NR_003051.4(RMRP):n.18C>T rs769169620 0.00002
NR_003051.4(RMRP):n.203C>T rs183570217 0.00002
NR_003051.4(RMRP):n.233G>A rs774897161 0.00002
NR_003051.4(RMRP):n.265G>A rs578123788 0.00002
NR_003051.4(RMRP):n.60T>C rs1040824418 0.00002
NC_000009.12:g.35658034C>T rs780414839 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-20_-8dup rs1823640657 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.4(RMRP):n.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 0.00001
NR_003051.4(RMRP):n.102A>G rs983337094 0.00001
NR_003051.4(RMRP):n.115_116insA rs769131655 0.00001
NR_003051.4(RMRP):n.127C>T rs1303461251 0.00001
NR_003051.4(RMRP):n.167T>G rs1160309777 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.202C>T rs1245933575 0.00001
NR_003051.4(RMRP):n.20G>C rs910861550 0.00001
NR_003051.4(RMRP):n.235A>G rs1371155716 0.00001
NR_003051.4(RMRP):n.247G>A rs1345047056 0.00001
NR_003051.4(RMRP):n.263C>G rs533294975 0.00001
NR_003051.4(RMRP):n.46C>T rs1394104178 0.00001
NR_003051.4(RMRP):n.94A>C rs928762713 0.00001
NR_003051.4(RMRP):n.97G>A rs970510851 0.00001
NC_000009.12:g.35658020C>T rs958637129
NC_000009.12:g.35658022T>A rs555890962
NC_000009.12:g.35658023C>A rs7024732
NC_000009.12:g.35658023C>T rs7024732
NC_000009.12:g.35658024C>A rs191438045
NC_000009.12:g.35658024C>G rs191438045
NC_000009.12:g.35658025T>A rs111909453
NC_000009.12:g.35658026C>T rs898955976
NC_000009.12:g.35658027A>C rs12552387
NC_000009.12:g.35658027A>G rs12552387
NC_000009.12:g.35658028G>C rs572830134
NC_000009.12:g.35658028G>T rs572830134
NC_000009.12:g.35658029C>T rs545020206
NC_000009.12:g.35658030T>C rs372044910
NC_000009.12:g.35658032_35658044dup rs1554651508
NC_000009.12:g.35658033A>G rs765292137
NC_000009.12:g.35658038G>A rs183974004
NC_000009.12:g.35658038G>C rs183974004
NC_000009.12:g.35658041G>T rs188660894
NC_000009.12:g.35658042T>A rs529852688
NC_000009.12:g.35658042T>C rs529852688
NC_000009.12:g.35658042T>G rs529852688
NC_000009.12:g.35658073T>C rs12551232
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-12dup rs1554651503
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-3dup rs1554651418
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-25_-21dup rs1563908297
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-88dup rs1052348382
NR_003051.3(RMRP):n.-9_1dup rs752934195
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.101C>G rs536333075
NR_003051.4(RMRP):n.113C>T rs1479610947
NR_003051.4(RMRP):n.115C>G rs769331218
NR_003051.4(RMRP):n.115C>T rs769331218
NR_003051.4(RMRP):n.117T>G rs1437035543
NR_003051.4(RMRP):n.118_119delAG rs1380611840
NR_003051.4(RMRP):n.121_124delCATT rs1191061440
NR_003051.4(RMRP):n.144G>C rs113967059
NR_003051.4(RMRP):n.147C>A rs757576534
NR_003051.4(RMRP):n.148G>C rs753874439
NR_003051.4(RMRP):n.148G>T rs753874439
NR_003051.4(RMRP):n.152A>G rs534955648
NR_003051.4(RMRP):n.156_172dup rs1587918082
NR_003051.4(RMRP):n.158G>A rs7021463
NR_003051.4(RMRP):n.162C>G rs751373603
NR_003051.4(RMRP):n.165G>A rs1405507797
NR_003051.4(RMRP):n.175G>T rs1823609688
NR_003051.4(RMRP):n.182delG rs1563906794
NR_003051.4(RMRP):n.186G>T rs908555769
NR_003051.4(RMRP):n.187C>A rs1051076135
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.1T>C rs188190570
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.216A>G rs886041234
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.223G>C rs924622406
NR_003051.4(RMRP):n.230C>A rs1169686514
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.243C>T rs912498335
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.262G>A rs769080777
NR_003051.4(RMRP):n.266C>T rs962412737
NR_003051.4(RMRP):n.267T>C rs557906740
NR_003051.4(RMRP):n.268G>C rs535022008
NR_003051.4(RMRP):n.27A>G rs1554651331
NR_003051.4(RMRP):n.2G>C rs773520232
NR_003051.4(RMRP):n.37C>G rs549085067
NR_003051.4(RMRP):n.3G>C rs905844277
NR_003051.4(RMRP):n.47T>C rs529328233
NR_003051.4(RMRP):n.54dup rs151011853
NR_003051.4(RMRP):n.57C>G rs999349961
NR_003051.4(RMRP):n.63G>A rs544069410
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.7G>C rs552002151
NR_003051.4(RMRP):n.84C>G rs1372572486
NR_003051.4(RMRP):n.84dup rs1222001621
NR_003051.4(RMRP):n.87C>G rs545284014
NR_003051.4(RMRP):n.87C>T rs545284014
NR_003051.4(RMRP):n.89G>A rs1264110860
NR_003051.4(RMRP):n.8T>G rs587781140
NR_003051.4(RMRP):n.97_98dup rs1340624774

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