ClinVar Miner

List of variants studied for Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
NR_003051.4(RMRP):n.2G>A rs773520232 0.00019
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
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NR_003051.4(RMRP):n.137C>T rs940224067 0.00005
NR_003051.4(RMRP):n.36A>G rs572081363 0.00005
NR_003051.3(RMRP):n.64C>T rs786204684 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.194C>T rs1045976155 0.00003
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 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.97G>A rs970510851 0.00001
NC_000009.12:g.35657928T>C rs752723025
NC_000009.12:g.35658020C>A rs958637129
NC_000009.12:g.35658027A>G rs12552387
NC_000009.12:g.35658036G>A rs775303012
NC_000009.12:g.35658038G>A rs183974004
NC_000009.12:g.35658042T>C rs529852688
NC_000009.12:g.35658042T>G rs529852688
NC_000009.12:g.35658049T>C rs145463993
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-12dup rs1554651504
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.115C>T rs769331218
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.134C>T rs1587918293
NR_003051.4(RMRP):n.147C>A rs757576534
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.223G>T
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.87C>G rs545284014

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