ClinVar Miner

List of variants studied for achondrogenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 278
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HGVS dbSNP
GDF5, 1-BP DEL, 1144G
GDF5, 1-BP INS, 297C
NM_000112.3(SLC26A2):c.*1024T>G rs8073
NM_000112.3(SLC26A2):c.*1146G>T rs886060232
NM_000112.3(SLC26A2):c.*1221delA rs886060233
NM_000112.3(SLC26A2):c.*1221dupA rs886060233
NM_000112.3(SLC26A2):c.*1427G>A rs760907801
NM_000112.3(SLC26A2):c.*1543C>T rs886060235
NM_000112.3(SLC26A2):c.*1552G>C rs143723917
NM_000112.3(SLC26A2):c.*1631C>T rs7717795
NM_000112.3(SLC26A2):c.*1892dupT rs148778566
NM_000112.3(SLC26A2):c.*1970G>T rs147208348
NM_000112.3(SLC26A2):c.*2003A>G rs886060237
NM_000112.3(SLC26A2):c.*205G>A rs115383424
NM_000112.3(SLC26A2):c.*216T>G rs886060227
NM_000112.3(SLC26A2):c.*2176A>G rs772022436
NM_000112.3(SLC26A2):c.*2226C>T rs7722454
NM_000112.3(SLC26A2):c.*2289T>C rs886060238
NM_000112.3(SLC26A2):c.*2330C>T rs886060239
NM_000112.3(SLC26A2):c.*2357T>C rs886060240
NM_000112.3(SLC26A2):c.*2443A>G rs886060241
NM_000112.3(SLC26A2):c.*2470T>G rs555959221
NM_000112.3(SLC26A2):c.*2603T>C rs749507700
NM_000112.3(SLC26A2):c.*2612C>T rs28451300
NM_000112.3(SLC26A2):c.*2617C>T rs188922059
NM_000112.3(SLC26A2):c.*264C>G rs886060228
NM_000112.3(SLC26A2):c.*2772C>T rs886060242
NM_000112.3(SLC26A2):c.*2780G>A rs9324635
NM_000112.3(SLC26A2):c.*2790G>A rs886060243
NM_000112.3(SLC26A2):c.*300C>T rs570796999
NM_000112.3(SLC26A2):c.*3044G>A rs886060244
NM_000112.3(SLC26A2):c.*3165G>A rs185603342
NM_000112.3(SLC26A2):c.*3225T>C rs144502932
NM_000112.3(SLC26A2):c.*3261A>C rs886060245
NM_000112.3(SLC26A2):c.*3307A>G rs557854258
NM_000112.3(SLC26A2):c.*330G>T rs191884433
NM_000112.3(SLC26A2):c.*3404C>T rs30833
NM_000112.3(SLC26A2):c.*3435C>G rs189916904
NM_000112.3(SLC26A2):c.*3466C>G rs6888879
NM_000112.3(SLC26A2):c.*3580A>G rs148424806
NM_000112.3(SLC26A2):c.*3670G>A rs76262875
NM_000112.3(SLC26A2):c.*3693_*3695delCAG rs886060246
NM_000112.3(SLC26A2):c.*394T>A rs140641532
NM_000112.3(SLC26A2):c.*4064dupA rs886060247
NM_000112.3(SLC26A2):c.*4224A>G rs777116235
NM_000112.3(SLC26A2):c.*4333G>A rs886060248
NM_000112.3(SLC26A2):c.*4391G>T rs150508217
NM_000112.3(SLC26A2):c.*4397A>G rs547302746
NM_000112.3(SLC26A2):c.*4460G>T rs111742763
NM_000112.3(SLC26A2):c.*4469delT rs397883627
NM_000112.3(SLC26A2):c.*4469dupT rs397883627
NM_000112.3(SLC26A2):c.*453G>A rs886060229
NM_000112.3(SLC26A2):c.*4586C>T rs886060250
NM_000112.3(SLC26A2):c.*4612G>A rs886060251
NM_000112.3(SLC26A2):c.*4782A>G rs886060252
NM_000112.3(SLC26A2):c.*4799G>A rs72832119
NM_000112.3(SLC26A2):c.*4870dupT rs368872246
NM_000112.3(SLC26A2):c.*4930C>T rs79521091
NM_000112.3(SLC26A2):c.*4982A>G rs74589369
NM_000112.3(SLC26A2):c.*5338T>C rs17711997
NM_000112.3(SLC26A2):c.*5387T>G rs567348765
NM_000112.3(SLC26A2):c.*53C>G rs886060226
NM_000112.3(SLC26A2):c.*5553G>A rs10476926
NM_000112.3(SLC26A2):c.*590C>T rs1046710
NM_000112.3(SLC26A2):c.*600G>T rs143723255
NM_000112.3(SLC26A2):c.*896A>G rs886060230
NM_000112.3(SLC26A2):c.*938T>C rs150188068
NM_000112.3(SLC26A2):c.*974C>G rs886060231
NM_000112.3(SLC26A2):c.-162T>C rs564087874
NM_000112.3(SLC26A2):c.-163T>C rs886060221
NM_000112.3(SLC26A2):c.-183G>C rs540241474
NM_000112.3(SLC26A2):c.-206T>A rs560467935
NM_000112.3(SLC26A2):c.-223A>G rs886060220
NM_000112.3(SLC26A2):c.-235T>C rs760297706
NM_000112.3(SLC26A2):c.-238G>A rs11953129
NM_000112.3(SLC26A2):c.-256G>A rs886060219
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.-40G>A rs532461120
NM_000112.3(SLC26A2):c.1020_1022delTGT (p.Val341del) rs121908077
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.3(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143
NM_000112.3(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.3(SLC26A2):c.1311dupT (p.Ala438Cysfs) rs1057517471
NM_000112.3(SLC26A2):c.1338delA (p.Glu447Asnfs) rs1057517502
NM_000112.3(SLC26A2):c.1394delT (p.Leu465Cysfs) rs386833495
NM_000112.3(SLC26A2):c.1402C>T (p.Leu468Phe) rs886060224
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544
NM_000112.3(SLC26A2):c.1537_1541dup (p.Ile514Metfs) rs1057517511
NM_000112.3(SLC26A2):c.1649delA (p.Lys550Argfs) rs1057517482
NM_000112.3(SLC26A2):c.1650delG (p.Ser551Valfs) rs386833497
NM_000112.3(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832
NM_000112.3(SLC26A2):c.1724delA (p.Lys575Serfs) rs386833498
NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254
NM_000112.3(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.3(SLC26A2):c.1806_1809delAACT (p.Thr603Serfs) rs1057517530
NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) rs1057517523
NM_000112.3(SLC26A2):c.188delA (p.Asp63Valfs) rs1057517496
NM_000112.3(SLC26A2):c.1955_1958delACTG (p.Asp652Alafs) rs1057517474
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.1976delT (p.Leu659Terfs) rs386833499
NM_000112.3(SLC26A2):c.1982delC (p.Thr661Lysfs) rs762137330
NM_000112.3(SLC26A2):c.1998_1999delAC (p.Leu667Glufs) rs1057517513
NM_000112.3(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070
NM_000112.3(SLC26A2):c.207delT (p.Phe69Leufs) rs1057517462
NM_000112.3(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915
NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=) rs886060225
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312
NM_000112.3(SLC26A2):c.239_243dup (p.Pro82Alafs) rs1057517504
NM_000112.3(SLC26A2):c.391delC (p.Leu131Cysfs) rs786200881
NM_000112.3(SLC26A2):c.485_486delTG (p.Val162Glyfs) rs763198695
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) rs1057517483
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.699+13G>T rs886060222
NM_000112.3(SLC26A2):c.699+2T>C rs1057517461
NM_000112.3(SLC26A2):c.736_739delGTCT (p.Val246Thrfs) rs1057517524
NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.3(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147
NM_000112.3(SLC26A2):c.793C>T (p.Leu265Phe) rs886060223
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000112.3(SLC26A2):c.918delC (p.Thr307Profs) rs1057517526
NM_000112.3(SLC26A2):c.922delA (p.Ser308Alafs) rs1057517495
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000112.3(SLC26A2):c.993A>C (p.Ala331=) rs772104667
NM_000557.2:c.1144del
NM_000557.4(GDF5):c.1199G>A (p.Cys400Tyr) rs74315387
NM_001844.4(COL2A1):c.1547G>A (p.Gly516Asp) rs121912888
NM_001844.4(COL2A1):c.1637G>T (p.Gly546Val) rs121912899
NM_001844.4(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.4(COL2A1):c.1979G>A (p.Gly660Glu) rs1555166729
NM_001844.4(COL2A1):c.2320G>A (p.Gly774Ser) rs121912867
NM_001844.4(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.4(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.4(COL2A1):c.2671G>C (p.Gly891Arg) rs121912879
NM_001844.4(COL2A1):c.2905G>A (p.Gly969Ser) rs121912878
NM_001844.4(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.4(COL2A1):c.3062_3079del18 (p.Pro1021_Gly1026del) rs1555165335
NM_001844.4(COL2A1):c.3158G>A (p.Gly1053Glu) rs121912868
NM_001844.4(COL2A1):c.3220G>A (p.Gly1074Ser) rs121912864
NM_001844.4(COL2A1):c.803C>T (p.Pro268Leu) rs142770543
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)
NM_001844.5(COL2A1):c.1680+2T>G
NM_004239.3(TRIP11):c.586C>T
NM_004239.4(TRIP11):c.*100A>G rs144403505
NM_004239.4(TRIP11):c.*1060C>T rs10142576
NM_004239.4(TRIP11):c.*1194A>G rs886050894
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.*1374A>C rs74801826
NM_004239.4(TRIP11):c.*1554T>A rs11848545
NM_004239.4(TRIP11):c.*163C>T rs142907939
NM_004239.4(TRIP11):c.*1744G>A rs11848512
NM_004239.4(TRIP11):c.*246A>G rs111335604
NM_004239.4(TRIP11):c.*290A>G rs189206458
NM_004239.4(TRIP11):c.*312A>G rs565776732
NM_004239.4(TRIP11):c.*345T>C rs17127786
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.*384A>T rs886050900
NM_004239.4(TRIP11):c.*387del rs148331500
NM_004239.4(TRIP11):c.*409A>G rs886050899
NM_004239.4(TRIP11):c.*430A>G rs12587248
NM_004239.4(TRIP11):c.*491A>C rs886050898
NM_004239.4(TRIP11):c.*544C>T rs528182792
NM_004239.4(TRIP11):c.*610A>C rs111671120
NM_004239.4(TRIP11):c.*628C>T rs886050897
NM_004239.4(TRIP11):c.*840A>G rs368630607
NM_004239.4(TRIP11):c.*891A>G rs886050896
NM_004239.4(TRIP11):c.*904A>G rs886050895
NM_004239.4(TRIP11):c.*930C>T rs74071653
NM_004239.4(TRIP11):c.*952A>T rs1133441
NM_004239.4(TRIP11):c.*9C>G rs373269085
NM_004239.4(TRIP11):c.-128C>T rs886050910
NM_004239.4(TRIP11):c.-24G>A rs199937850
NM_004239.4(TRIP11):c.-255G>A rs886050911
NM_004239.4(TRIP11):c.-265C>A rs532470754
NM_004239.4(TRIP11):c.-267A>G rs886050912
NM_004239.4(TRIP11):c.-272G>C rs886050913
NM_004239.4(TRIP11):c.-331C>G rs1955683
NM_004239.4(TRIP11):c.-333G>A rs559266963
NM_004239.4(TRIP11):c.-335G>A rs886050914
NM_004239.4(TRIP11):c.-337C>T rs886050915
NM_004239.4(TRIP11):c.-365C>G rs74071824
NM_004239.4(TRIP11):c.-58C>T rs886050909
NM_004239.4(TRIP11):c.-61C>T rs78222479
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) rs376669587
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) rs17127898
NM_004239.4(TRIP11):c.1186+14G>A rs371492052
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr)
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser)
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) rs142579179
NM_004239.4(TRIP11):c.1527+6A>G rs17127844
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781
NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) rs749219134
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095
NM_004239.4(TRIP11):c.183T>C (p.His61=) rs138904373
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) rs59635749
NM_004239.4(TRIP11):c.1933_1936AAAG[1] (p.Arg647Lysfs)
NM_004239.4(TRIP11):c.202-2A>G rs863223281
NM_004239.4(TRIP11):c.202-7T>A rs56034853
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710Cysfs)
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn)
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376
NM_004239.4(TRIP11):c.2304_2307del (p.Asn768Lysfs)
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) rs201394520
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) rs374243914
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833Ilefs) rs1085307101
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) rs140106241
NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val) rs886050907
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) rs201417947
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) rs758437737
NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn) rs200045450
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) rs200739251
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071
NM_004239.4(TRIP11):c.3352_3353delGA (p.Glu1118Ilefs)
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) rs769979770
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898
NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu) rs886050906
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) rs138661581
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) rs766014867
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) rs371786500
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) rs372272441
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498
NM_004239.4(TRIP11):c.4699-4C>G rs886050905
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347
NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) rs370124193
NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) rs886050904
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu)
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) rs2038276
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) rs536393273
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) rs11851376
NM_004239.4(TRIP11):c.5457+13T>A rs886050903
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) rs550137986
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys)
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) rs369316409
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) rs137938779
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) rs748645116
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) rs748903681
NM_004239.4(TRIP11):c.617_618delCT (p.Ser206Terfs)
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) rs886050908
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) rs267607138
NM_004239.4(TRIP11):c.823+4A>T rs778772980
NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) rs373532678
NP_004230.2(TRIP11):p.Trp1224Ter

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