ClinVar Miner

List of variants reported as benign for achondrogenesis

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_000112.4(SLC26A2):c.*3404C>T rs30833 0.98883
NM_004239.4(TRIP11):c.*1060C>T rs10142576 0.65231
NM_000557.5(GDF5):c.-48= rs143384 0.56056
NM_000557.5(GDF5):c.-275= rs143383 0.53070
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
NM_004239.4(TRIP11):c.*430A>G rs12587248 0.33383
NM_004239.4(TRIP11):c.1527+41A>G rs3818095 0.29544
NM_004239.4(TRIP11):c.*952A>T rs1133441 0.29427
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340 0.29281
NM_004239.4(TRIP11):c.5260+24T>C rs2273182 0.28783
NM_000112.4(SLC26A2):c.*1024T>G rs8073 0.21816
NM_000112.4(SLC26A2):c.*5553G>A rs10476926 0.20874
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000112.4(SLC26A2):c.*5338T>C rs17711997 0.14477
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330 0.10244
NM_000557.5(GDF5):c.*335A>C rs73611720 0.09512
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) rs17127898 0.06056
NM_000557.5(GDF5):c.*425T>C rs56366915 0.04970
NM_000112.4(SLC26A2):c.*4982A>G rs74589369 0.04589
NM_000112.4(SLC26A2):c.*3670G>A rs76262875 0.04581
NM_000112.4(SLC26A2):c.*2226C>T rs7722454 0.04260
NM_004239.4(TRIP11):c.*1744G>A rs11848512 0.03789
NM_000112.4(SLC26A2):c.*4460G>T rs111742763 0.03131
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) rs11851376 0.03105
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581 0.03081
NM_000112.4(SLC26A2):c.*590C>T rs1046710 0.03077
NM_000112.4(SLC26A2):c.*1631C>T rs7717795 0.03068
NM_004239.4(TRIP11):c.*345T>C rs17127786 0.02579
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837 0.02457
NM_004239.4(TRIP11):c.*1374A>C rs74801826 0.02226
NM_004239.4(TRIP11):c.*1554T>A rs11848545 0.02207
NM_000557.5(GDF5):c.*193G>T rs114832948 0.02139
NM_000557.5(GDF5):c.-135G>A rs73094730 0.02106
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_004239.4(TRIP11):c.-331C>G rs1955683 0.01570
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249 0.01569
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719 0.01567
NM_000112.4(SLC26A2):c.*2617C>T rs188922059 0.01558
NM_000112.4(SLC26A2):c.*4391G>T rs150508217 0.01531
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347 0.01467
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261 0.01405
NM_004239.4(TRIP11):c.-365C>G rs74071824 0.01403
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071 0.01402
NM_004239.4(TRIP11):c.1527+6A>G rs17127844 0.01376
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887 0.01366
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_004239.4(TRIP11):c.*930C>T rs74071653 0.01332
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762 0.01322
NM_000112.4(SLC26A2):c.*3466C>G rs6888879 0.01309
NM_000112.4(SLC26A2):c.*2612C>T rs28451300 0.01303
NM_004239.4(TRIP11):c.202-7T>A rs56034853 0.01303
NM_004239.4(TRIP11):c.*610A>C rs111671120 0.01218
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848 0.01111
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898 0.01101
NM_004239.4(TRIP11):c.*246A>G rs111335604 0.01067
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_000112.4(SLC26A2):c.*394T>A rs140641532 0.00987
NM_000112.4(SLC26A2):c.*938T>C rs150188068 0.00983
NM_000112.4(SLC26A2):c.*4930C>T rs79521091 0.00981
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672 0.00895
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala) rs2273186 0.00816
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842 0.00729
NM_004239.4(TRIP11):c.*749G>A rs150189603 0.00726
NM_004239.4(TRIP11):c.*664C>T rs138892598 0.00717
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380 0.00687
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498 0.00686
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380 0.00682
NM_000112.4(SLC26A2):c.*1552G>C rs143723917 0.00675
NM_000112.4(SLC26A2):c.*2780G>A rs9324635 0.00587
NM_004239.4(TRIP11):c.*163C>T rs142907939 0.00562
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) rs35798420 0.00558
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) rs59635749 0.00410
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454 0.00410
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) rs2273183 0.00188
NM_004239.4(TRIP11):c.5056+11C>T rs199549473 0.00170
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
NM_000112.4(SLC26A2):c.*600G>T rs143723255 0.00148
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) rs145868557 0.00148
NM_004239.4(TRIP11):c.-61C>T rs78222479 0.00145
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 0.00103
NM_004239.4(TRIP11):c.5057-9T>G rs372161255 0.00070
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213 0.00042
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112 0.00026
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095 0.00026
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) rs140106241 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454 0.00025
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=) rs116657359 0.00022
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) rs200739251 0.00019
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_004239.4(TRIP11):c.576G>C (p.Arg192Ser) rs577597668 0.00015
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_004239.4(TRIP11):c.183T>C (p.His61=) rs138904373 0.00012
NM_004239.4(TRIP11):c.4500C>T (p.Cys1500=) rs140939244 0.00012
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=) rs144317897 0.00008
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) rs367632896 0.00008
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) rs2038276 0.00004
NM_004239.4(TRIP11):c.1098G>A (p.Lys366=) rs201503194 0.00002
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) rs201112407 0.00001
NM_000112.4(SLC26A2):c.*4469del rs397883627
NM_004239.4(TRIP11):c.*387C>A rs375437590
NM_004239.4(TRIP11):c.1384G>T (p.Asp462Tyr)
NM_004239.4(TRIP11):c.202-5del
NM_004239.4(TRIP11):c.2355G>A (p.Met785Ile) rs373362974
NM_004239.4(TRIP11):c.4892+10del rs794727098
NM_004239.4(TRIP11):c.4893-9del
NM_004239.4(TRIP11):c.5260+12del
NM_004239.4(TRIP11):c.588+11del rs750898619
NM_004239.4(TRIP11):c.588+17dup

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