ClinVar Miner

List of variants studied for achondrogenesis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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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.*952A>T rs1133441 0.29427
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340 0.29281
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.*1892dup rs148778566 0.04587
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_004239.4(TRIP11):c.*387del rs148331500 0.02205
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_000112.4(SLC26A2):c.*4799G>A rs72832119 0.01211
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_004239.4(TRIP11):c.*288C>A rs61988386 0.01041
NM_000112.4(SLC26A2):c.*394T>A rs140641532 0.00987
NM_000112.4(SLC26A2):c.*4870dup rs368872246 0.00983
NM_000112.4(SLC26A2):c.*938T>C rs150188068 0.00983
NM_000112.4(SLC26A2):c.*4930C>T rs79521091 0.00981
NM_000112.4(SLC26A2):c.*2873C>T rs114919633 0.00970
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_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_000112.4(SLC26A2):c.*330G>T rs191884433 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.-183G>C rs540241474 0.00338
NM_000112.4(SLC26A2):c.*3507T>A rs180966130 0.00309
NM_004239.4(TRIP11):c.*100A>G rs144403505 0.00286
NM_000112.4(SLC26A2):c.*205G>A rs115383424 0.00280
NM_000112.4(SLC26A2):c.*2470T>G rs555959221 0.00274
NM_000112.4(SLC26A2):c.*443T>C rs115977282 0.00246
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481 0.00236
NM_004239.4(TRIP11):c.*384A>T rs886050900 0.00233
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
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_000112.4(SLC26A2):c.*4659G>T rs143908264 0.00169
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
NM_000557.5(GDF5):c.-134C>G rs144924248 0.00155
NM_000112.4(SLC26A2):c.*1970G>T rs147208348 0.00148
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_004239.4(TRIP11):c.217A>G (p.Lys73Glu) rs114300046 0.00145
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938 0.00103
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 0.00103
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) rs138661581 0.00095
NM_000112.4(SLC26A2):c.*1032G>T rs188329536 0.00085
NM_000112.4(SLC26A2):c.*1588T>C rs537659797 0.00083
NM_004239.4(TRIP11):c.*290A>G rs189206458 0.00081
NM_000112.4(SLC26A2):c.*300C>T rs570796999 0.00077
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_004239.4(TRIP11):c.5057-9T>G rs372161255 0.00070
NM_000112.4(SLC26A2):c.*3225T>C rs144502932 0.00064
NM_000112.4(SLC26A2):c.*3307A>G rs557854258 0.00060
NM_000112.4(SLC26A2):c.-162T>C rs564087874 0.00060
NM_000112.4(SLC26A2):c.*3262T>C rs545457852 0.00059
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
NM_004239.4(TRIP11):c.9C>T (p.Ser3=) rs148398142 0.00055
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390 0.00050
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) rs137938779 0.00049
NM_000112.4(SLC26A2):c.-40G>A rs532461120 0.00045
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213 0.00042
NM_004239.4(TRIP11):c.-333G>A rs559266963 0.00038
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe) rs75097996 0.00032
NM_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_004239.4(TRIP11):c.-349T>G rs753241449 0.00029
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr) rs143392370 0.00029
NM_004239.4(TRIP11):c.202-11T>G rs561503305 0.00027
NM_000112.4(SLC26A2):c.*1427G>A rs760907801 0.00026
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
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_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454 0.00025
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) rs142579179 0.00024
NM_004239.4(TRIP11):c.5197G>A (p.Ala1733Thr) rs142518915 0.00024
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=) rs142075650 0.00024
NM_000112.4(SLC26A2):c.*2720C>T rs557400349 0.00023
NM_000112.4(SLC26A2):c.*4462T>G rs999338434 0.00023
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) rs140416653 0.00023
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=) rs116657359 0.00022
NM_000112.4(SLC26A2):c.*3435C>G rs189916904 0.00021
NM_004239.4(TRIP11):c.-24G>A rs199937850 0.00019
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.3120A>G (p.Ile1040Met) rs150434192 0.00017
NM_000557.5(GDF5):c.*259G>C rs150833046 0.00016
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) rs137914270 0.00016
NM_000112.4(SLC26A2):c.*1935T>A rs537754833 0.00015
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) rs201417947 0.00015
NM_000112.4(SLC26A2):c.*2978A>G rs181164665 0.00014
NM_000112.4(SLC26A2):c.*3165G>A rs185603342 0.00014
NM_004239.4(TRIP11):c.5719+2T>C rs199736345 0.00014
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) rs201394520 0.00013
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) rs374243914 0.00013
NM_004239.4(TRIP11):c.183T>C (p.His61=) rs138904373 0.00012
NM_000112.3(SLC26A2):c.-256G>A rs886060219 0.00011
NM_000112.4(SLC26A2):c.*2176A>G rs772022436 0.00011
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254 0.00011
NM_000112.4(SLC26A2):c.*4612G>A rs886060251 0.00010
NM_000557.5(GDF5):c.-220C>T rs886056643 0.00010
NM_004239.4(TRIP11):c.1186+14G>A rs371492052 0.00010
NM_000112.4(SLC26A2):c.*4397A>G rs547302746 0.00009
NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys) rs200897133 0.00009
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915 0.00009
NM_004239.4(TRIP11):c.*107C>T rs778402674 0.00009
NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn) rs200045450 0.00009
NM_004239.4(TRIP11):c.3413A>G (p.Asp1138Gly) rs749388466 0.00009
NM_004239.4(TRIP11):c.3743A>G (p.Gln1248Arg) rs150694723 0.00009
NM_000112.4(SLC26A2):c.*4586C>T rs886060250 0.00008
NM_004239.4(TRIP11):c.*938A>G rs759610969 0.00008
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) rs367632896 0.00008
NM_000112.3(SLC26A2):c.-264C>T rs963803079 0.00007
NM_000112.4(SLC26A2):c.*834T>C rs767822866 0.00007
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101 0.00007
NM_000112.4(SLC26A2):c.*2003A>G rs886060237 0.00006
NM_000112.4(SLC26A2):c.*3580A>G rs148424806 0.00006
NM_000112.4(SLC26A2):c.*4064dup rs886060247 0.00006
NM_000112.4(SLC26A2):c.*4224A>G rs777116235 0.00006
NM_004239.4(TRIP11):c.*544C>T rs528182792 0.00006
NM_004239.4(TRIP11):c.5469C>T (p.Asp1823=) rs762580256 0.00006
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_004239.4(TRIP11):c.-265C>A rs532470754 0.00005
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) rs886050908 0.00005
NM_000112.4(SLC26A2):c.*2212T>G rs777419320 0.00004
NM_000112.4(SLC26A2):c.*2232A>T rs1233972792 0.00004
NM_000112.4(SLC26A2):c.1609T>C (p.Phe537Leu) rs762087746 0.00004
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00004
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
NM_004239.4(TRIP11):c.*297A>G rs1266688652 0.00004
NM_004239.4(TRIP11):c.-128C>T rs886050910 0.00004
NM_004239.4(TRIP11):c.1146A>G (p.Ala382=) rs377371591 0.00004
NM_004239.4(TRIP11):c.1715A>G (p.Asn572Ser) rs201139951 0.00004
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376 0.00004
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) rs758437737 0.00004
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) rs371786500 0.00004
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) rs536393273 0.00004
NM_000112.4(SLC26A2):c.*216T>G rs886060227 0.00003
NM_000112.4(SLC26A2):c.*2603T>C rs749507700 0.00003
NM_000112.4(SLC26A2):c.*2772C>T rs886060242 0.00003
NM_000112.4(SLC26A2):c.*3918C>T rs192457706 0.00003
NM_000112.4(SLC26A2):c.*4782A>G rs886060252 0.00003
NM_000112.4(SLC26A2):c.*693G>T rs974372860 0.00003
NM_000112.4(SLC26A2):c.-235T>C rs760297706 0.00003
NM_000112.4(SLC26A2):c.993A>C (p.Ala331=) rs772104667 0.00003
NM_004239.4(TRIP11):c.-267A>G rs886050912 0.00003
NM_004239.4(TRIP11):c.-58C>T rs886050909 0.00003
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile) rs142078341 0.00003
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=) rs373454645 0.00003
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=) rs746081059 0.00003
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) rs372272441 0.00003
NM_004239.4(TRIP11):c.506C>T (p.Ser169Leu) rs766742508 0.00003
NM_000112.4(SLC26A2):c.*182C>G rs770082455 0.00002
NM_000112.4(SLC26A2):c.*220T>A rs775637237 0.00002
NM_000112.4(SLC26A2):c.*2289T>C rs886060238 0.00002
NM_000112.4(SLC26A2):c.*2443A>G rs886060241 0.00002
NM_000112.4(SLC26A2):c.*453G>A rs886060229 0.00002
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) rs373973964 0.00002
NM_004239.4(TRIP11):c.*1521G>A rs187716047 0.00002
NM_004239.4(TRIP11):c.477C>T (p.Asp159=) rs147932068 0.00002
NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu) rs766363206 0.00002
NM_004239.4(TRIP11):c.657+9A>C rs182914589 0.00002
NM_000112.4(SLC26A2):c.*1071G>A rs1297589956 0.00001
NM_000112.4(SLC26A2):c.*2265C>T rs1561826201 0.00001
NM_000112.4(SLC26A2):c.*2330C>T rs886060239 0.00001
NM_000112.4(SLC26A2):c.*3037G>A rs1171255123 0.00001
NM_000112.4(SLC26A2):c.*3261A>C rs886060245 0.00001
NM_000112.4(SLC26A2):c.*5077A>G rs1430276243 0.00001
NM_000112.4(SLC26A2):c.*5203C>T rs559269489 0.00001
NM_000112.4(SLC26A2):c.*5251C>T rs569655749 0.00001
NM_000112.4(SLC26A2):c.*53C>G rs886060226 0.00001
NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His) rs368864462 0.00001
NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu) rs1387357203 0.00001
NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=) rs886060225 0.00001
NM_000112.4(SLC26A2):c.280C>T (p.Pro94Ser) rs771569066 0.00001
NM_000557.5(GDF5):c.*166G>A rs569761315 0.00001
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) rs367914931 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) rs776415223 0.00001
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) rs768978933 0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=) rs752789551 0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=) rs746980493 0.00001
NM_000557.5(GDF5):c.631+6G>A rs768697784 0.00001
NM_004239.4(TRIP11):c.*1591G>T rs2056357809 0.00001
NM_004239.4(TRIP11):c.*312A>G rs565776732 0.00001
NM_004239.4(TRIP11):c.*840A>G rs368630607 0.00001
NM_004239.4(TRIP11):c.-255G>A rs886050911 0.00001
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) rs201112407 0.00001
NM_004239.4(TRIP11):c.1663A>G (p.Lys555Glu) rs1036135729 0.00001
NM_004239.4(TRIP11):c.1897C>A (p.Gln633Lys) rs377170955 0.00001
NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn) rs775138686 0.00001
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) rs766014867 0.00001
NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) rs370124193 0.00001
NM_004239.4(TRIP11):c.5202A>T (p.Ser1734=) rs1290468454 0.00001
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) rs369316409 0.00001
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=) rs764596712 0.00001
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) rs748645116 0.00001
NM_004239.4(TRIP11):c.823+4A>T rs778772980 0.00001
NM_004239.4(TRIP11):c.824-15G>C rs766724573 0.00001
NM_004239.4(TRIP11):c.998G>A (p.Arg333Lys) rs1459653860 0.00001
NM_000112.4(SLC26A2):c.*1040T>C rs1755133644
NM_000112.4(SLC26A2):c.*1146G>T rs886060232
NM_000112.4(SLC26A2):c.*1221del rs886060233
NM_000112.4(SLC26A2):c.*1221dup rs886060233
NM_000112.4(SLC26A2):c.*1260C>T rs568364063
NM_000112.4(SLC26A2):c.*1376T>G rs1028181479
NM_000112.4(SLC26A2):c.*1543C>T rs886060235
NM_000112.4(SLC26A2):c.*204C>T rs529744947
NM_000112.4(SLC26A2):c.*2357T>C rs886060240
NM_000112.4(SLC26A2):c.*2476T>C rs570682108
NM_000112.4(SLC26A2):c.*264C>G rs886060228
NM_000112.4(SLC26A2):c.*2790G>A rs886060243
NM_000112.4(SLC26A2):c.*2970G>A rs572039810
NM_000112.4(SLC26A2):c.*3044G>A rs886060244
NM_000112.4(SLC26A2):c.*3360A>T rs1755178371
NM_000112.4(SLC26A2):c.*3690CAG[1] rs886060246
NM_000112.4(SLC26A2):c.*3940C>T rs1048014506
NM_000112.4(SLC26A2):c.*4017C>A rs1755189390
NM_000112.4(SLC26A2):c.*4104A>T rs1372026789
NM_000112.4(SLC26A2):c.*4333G>A rs886060248
NM_000112.4(SLC26A2):c.*4419A>C rs140200789
NM_000112.4(SLC26A2):c.*4469del rs397883627
NM_000112.4(SLC26A2):c.*4469dup rs397883627
NM_000112.4(SLC26A2):c.*4514T>G rs1755199198
NM_000112.4(SLC26A2):c.*4857A>G rs1755205853
NM_000112.4(SLC26A2):c.*5214A>G rs1755210770
NM_000112.4(SLC26A2):c.*5387T>G rs567348765
NM_000112.4(SLC26A2):c.*5416A>C rs1007945580
NM_000112.4(SLC26A2):c.*896A>G rs886060230
NM_000112.4(SLC26A2):c.*974C>G rs886060231
NM_000112.4(SLC26A2):c.-163T>C rs886060221
NM_000112.4(SLC26A2):c.-206T>A rs560467935
NM_000112.4(SLC26A2):c.-223A>G rs886060220
NM_000112.4(SLC26A2):c.-229T>C rs766027398
NM_000112.4(SLC26A2):c.-238G>A rs11953129
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.4(SLC26A2):c.1402C>T (p.Leu468Phe) rs886060224
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=) rs1755110758
NM_000112.4(SLC26A2):c.699+13G>T rs886060222
NM_000112.4(SLC26A2):c.710G>T (p.Gly237Val) rs1228615816
NM_000112.4(SLC26A2):c.793C>T (p.Leu265Phe) rs886060223
NM_000112.4(SLC26A2):c.837G>T (p.Arg279=) rs1755073343
NM_000112.4(SLC26A2):c.841A>C (p.Asn281His) rs1755073505
NM_000112.4(SLC26A2):c.844G>T (p.Gly282Cys) rs571410872
NM_000557.5(GDF5):c.-97T>C rs960967052
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) rs1601074882
NM_000557.5(GDF5):c.506C>A (p.Pro169His) rs2062477372
NM_004239.4(TRIP11):c.*1175C>G rs1439636951
NM_004239.4(TRIP11):c.*1185G>A rs1424828686
NM_004239.4(TRIP11):c.*1194A>G rs886050894
NM_004239.4(TRIP11):c.*1212C>T rs2056361212
NM_004239.4(TRIP11):c.*1294A>G rs143185383
NM_004239.4(TRIP11):c.*1339del rs35251290
NM_004239.4(TRIP11):c.*1339dup rs35251290
NM_004239.4(TRIP11):c.*162G>T rs1318449538
NM_004239.4(TRIP11):c.*273A>C rs978962806
NM_004239.4(TRIP11):c.*362C>G rs886050902
NM_004239.4(TRIP11):c.*383del rs547231708
NM_004239.4(TRIP11):c.*383dup rs547231708
NM_004239.4(TRIP11):c.*387C>A rs375437590
NM_004239.4(TRIP11):c.*409A>G rs886050899
NM_004239.4(TRIP11):c.*491A>C rs886050898
NM_004239.4(TRIP11):c.*628C>T rs886050897
NM_004239.4(TRIP11):c.*891A>G rs886050896
NM_004239.4(TRIP11):c.*904A>G rs886050895
NM_004239.4(TRIP11):c.*9C>G rs373269085
NM_004239.4(TRIP11):c.-272G>C rs886050913
NM_004239.4(TRIP11):c.-335G>A rs886050914
NM_004239.4(TRIP11):c.-337C>T rs886050915
NM_004239.4(TRIP11):c.-98C>T rs2057364879
NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) rs749219134
NM_004239.4(TRIP11):c.1935A>G (p.Lys645=) rs748335821
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn) rs188524590
NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val) rs886050907
NM_004239.4(TRIP11):c.2741A>C (p.His914Pro) rs147530260
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) rs769979770
NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu) rs886050906
NM_004239.4(TRIP11):c.4649T>C (p.Met1550Thr) rs2056802217
NM_004239.4(TRIP11):c.4699-4C>G rs886050905
NM_004239.4(TRIP11):c.4760A>G (p.His1587Arg) rs1466787615
NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) rs886050904
NM_004239.4(TRIP11):c.4800G>C (p.Leu1600Phe) rs1251996329
NM_004239.4(TRIP11):c.4851G>C (p.Glu1617Asp) rs142530328
NM_004239.4(TRIP11):c.5449A>T (p.Met1817Leu) rs980314175
NM_004239.4(TRIP11):c.5457+13T>A rs886050903
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) rs748903681
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) rs149079426
NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) rs373532678

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