ClinVar Miner

List of variants studied for arthrogryposis, distal, type 1A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_213674.1(TPM2):c.-137T>A rs3793540 0.23673
NM_213674.1(TPM2):c.-136T>A rs3793539 0.23669
NM_213674.1(TPM2):c.-135T>A rs3793538 0.23661
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_003289.4(TPM2):c.773-4_773-3insA rs1554658501 0.02101
NM_003289.4(TPM2):c.-65C>T rs377242459 0.00097
NM_003289.4(TPM2):c.564-18dup rs776086128 0.00090
NM_003289.4(TPM2):c.*194C>T rs561175276 0.00068
NM_003289.4(TPM2):c.563+17G>A rs201633747 0.00062
NM_003289.4(TPM2):c.726C>T (p.Ala242=) rs76414035 0.00045
NM_213674.1(TPM2):c.-238C>T rs886063908 0.00019
NM_003289.4(TPM2):c.374+15C>T rs773380766 0.00018
NM_003289.4(TPM2):c.536C>T (p.Ser179Leu) rs150120234 0.00017
NM_003289.4(TPM2):c.633G>A (p.Ala211=) rs199758432 0.00016
NM_003289.4(TPM2):c.846C>A (p.Thr282=) rs148516241 0.00016
NM_003289.4(TPM2):c.18G>A (p.Lys6=) rs144658309 0.00015
NM_003289.4(TPM2):c.375-12C>A rs776577076 0.00015
NM_213674.1(TPM2):c.-158C>A rs886063907 0.00014
NM_003289.4(TPM2):c.*25A>C rs781513152 0.00012
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) rs34124921 0.00010
NM_003289.4(TPM2):c.773-19C>T rs111370399 0.00009
NM_003289.4(TPM2):c.*99A>G rs879505630 0.00007
NM_003289.4(TPM2):c.-10C>A rs372751531 0.00006
NM_003289.4(TPM2):c.225G>A (p.Glu75=) rs375762242 0.00006
NM_003289.4(TPM2):c.357G>A (p.Ala119=) rs376028030 0.00006
NM_003289.4(TPM2):c.374+16G>A rs769858878 0.00006
NM_003289.4(TPM2):c.564-18_564-17insA rs1554658810 0.00005
NM_003289.4(TPM2):c.773-10_773-9insG rs780351083 0.00005
NM_003289.4(TPM2):c.374+9G>C rs200730708 0.00004
NM_003289.4(TPM2):c.75C>T (p.Ala25=) rs138151922 0.00004
NM_003289.4(TPM2):c.189C>T (p.Ser63=) rs768912812 0.00003
NM_003289.4(TPM2):c.241-7C>A rs759898332 0.00003
NM_003289.4(TPM2):c.563+12C>T rs185397376 0.00003
NM_003289.4(TPM2):c.564-19C>G rs1374322376 0.00003
NM_003289.4(TPM2):c.618C>A (p.Ser206=) rs370079073 0.00003
NM_003289.4(TPM2):c.727G>A (p.Glu243Lys) rs775561043 0.00003
NM_003289.4(TPM2):c.*199C>T rs965743785 0.00002
NM_003289.4(TPM2):c.104G>T (p.Arg35Leu) rs750411907 0.00002
NM_003289.4(TPM2):c.399G>A (p.Arg133=) rs370635046 0.00002
NM_003289.4(TPM2):c.639+10A>G rs749160249 0.00002
NM_003289.4(TPM2):c.759C>T (p.Ile253=) rs1057524292 0.00002
NM_003289.4(TPM2):c.773-3C>A rs199476157 0.00002
NM_002472.3(MYH8):c.1771T>C (p.Tyr591His) rs760777722 0.00001
NM_003289.4(TPM2):c.114+9C>T rs537297747 0.00001
NM_003289.4(TPM2):c.192G>A (p.Val64=) rs1382163428 0.00001
NM_003289.4(TPM2):c.230A>G (p.Lys77Arg) rs1486146333 0.00001
NM_003289.4(TPM2):c.234C>T (p.Ala78=) rs749197310 0.00001
NM_003289.4(TPM2):c.248C>T (p.Ala83Val) rs770922057 0.00001
NM_003289.4(TPM2):c.272G>A (p.Arg91His) rs1394575742 0.00001
NM_003289.4(TPM2):c.295C>T (p.Leu99=) rs904588318 0.00001
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129 0.00001
NM_003289.4(TPM2):c.356C>T (p.Ala119Val) rs757873408 0.00001
NM_003289.4(TPM2):c.375-13C>T rs761810825 0.00001
NM_003289.4(TPM2):c.428T>A (p.Leu143Gln) rs1824848681 0.00001
NM_003289.4(TPM2):c.436A>G (p.Met146Val) rs764320619 0.00001
NM_003289.4(TPM2):c.450G>A (p.Glu150=) rs775425326 0.00001
NM_003289.4(TPM2):c.462C>T (p.Ile154=) rs1294721413 0.00001
NM_003289.4(TPM2):c.492+9C>T rs1037460279 0.00001
NM_003289.4(TPM2):c.493-10C>T rs770755856 0.00001
NM_003289.4(TPM2):c.52G>A (p.Ala18Thr) rs2490704395 0.00001
NM_003289.4(TPM2):c.537G>A (p.Ser179=) rs758819415 0.00001
NM_003289.4(TPM2):c.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.563+13G>C rs200644786 0.00001
NM_003289.4(TPM2):c.563+15G>T rs759495779 0.00001
NM_003289.4(TPM2):c.563+18T>A rs370352040 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_003289.4(TPM2):c.588G>A (p.Glu196=) rs777013950 0.00001
NM_003289.4(TPM2):c.632C>T (p.Ala211Val) rs778874374 0.00001
NM_003289.4(TPM2):c.639+16G>A rs777513303 0.00001
NM_003289.4(TPM2):c.639+6G>C rs1407467416 0.00001
NM_003289.4(TPM2):c.640-15G>A rs374069635 0.00001
NM_003289.4(TPM2):c.640-17G>C rs774074711 0.00001
NM_003289.4(TPM2):c.640-18dup rs746703203 0.00001
NM_003289.4(TPM2):c.640-19G>A rs1455692788 0.00001
NM_003289.4(TPM2):c.645C>T (p.Ser215=) rs1231488023 0.00001
NM_003289.4(TPM2):c.653A>C (p.Glu218Ala) rs749219928 0.00001
NM_003289.4(TPM2):c.666A>G (p.Glu222=) rs567593410 0.00001
NM_003289.4(TPM2):c.669G>A (p.Glu223=) rs148003612 0.00001
NM_003289.4(TPM2):c.66C>G (p.Ala22=) rs1195125126 0.00001
NM_003289.4(TPM2):c.679C>G (p.Leu227Val) rs779397499 0.00001
NM_003289.4(TPM2):c.70C>T (p.Gln24Ter) rs201987709 0.00001
NM_003289.4(TPM2):c.735T>A (p.Ser245=) rs377342494 0.00001
NM_003289.4(TPM2):c.747G>A (p.Leu249=) rs1431432489 0.00001
NM_003289.4(TPM2):c.757A>G (p.Ile253Val) rs1476739780 0.00001
NM_003289.4(TPM2):c.773-15C>T rs1041051353 0.00001
NM_003289.4(TPM2):c.813C>T (p.Ser271=) rs201215303 0.00001
NM_003289.4(TPM2):c.816G>A (p.Glu272=) rs1472747179 0.00001
NM_003289.4(TPM2):c.81C>A (p.Ala27=) rs564977715 0.00001
NM_003289.4(TPM2):c.829G>A (p.Ala277Thr) rs371325326 0.00001
NM_003289.4(TPM2):c.832C>T (p.Leu278Phe) rs1204906995 0.00001
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943 0.00001
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_35683146)_(36277049_?)dup
NC_000009.11:g.(?_35683156)_(35689814_?)dup
NC_000009.12:g.(?_35683149)_(35689827_?)dup
NM_000245.4(MET):c.3701A>G (p.Tyr1234Cys) rs1554400286
NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) rs1567553702
NM_003289.4(TPM2):c.*22C>A rs1824669468
NM_003289.4(TPM2):c.*7C>T rs79882576
NM_003289.4(TPM2):c.-92C>T rs886063906
NM_003289.4(TPM2):c.114+10G>A rs1416639797
NM_003289.4(TPM2):c.115-13C>T
NM_003289.4(TPM2):c.115-14C>A rs777476745
NM_003289.4(TPM2):c.115-16G>A rs2490701026
NM_003289.4(TPM2):c.115-5C>T rs1587966246
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.4(TPM2):c.13_57dup (p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle) rs2490704344
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) rs199476147
NM_003289.4(TPM2):c.14AGA[1] (p.Lys6_Lys7del) rs199476146
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) rs199476146
NM_003289.4(TPM2):c.180T>C (p.Tyr60=) rs1281970248
NM_003289.4(TPM2):c.180T>G (p.Tyr60Ter) rs1281970248
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003289.4(TPM2):c.196G>A (p.Glu66Lys) rs2490700340
NM_003289.4(TPM2):c.220G>A (p.Ala74Thr) rs2490700196
NM_003289.4(TPM2):c.220del (p.Ala74fs) rs2490700207
NM_003289.4(TPM2):c.240+15G>T rs1825106781
NM_003289.4(TPM2):c.240+5G>T
NM_003289.4(TPM2):c.240T>C (p.Asp80=) rs201145709
NM_003289.4(TPM2):c.241-14C>T rs767992303
NM_003289.4(TPM2):c.241-5C>T rs372898802
NM_003289.4(TPM2):c.261C>G (p.Ser87=)
NM_003289.4(TPM2):c.26A>C (p.Gln9Pro) rs1554659746
NM_003289.4(TPM2):c.271C>G (p.Arg91Gly) rs104894127
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.301C>T (p.Arg101Trp) rs2490684773
NM_003289.4(TPM2):c.302G>A (p.Arg101Gln) rs2131853430
NM_003289.4(TPM2):c.302G>C (p.Arg101Pro) rs2131853430
NM_003289.4(TPM2):c.306C>T (p.Ala102=) rs1587959127
NM_003289.4(TPM2):c.314G>A (p.Arg105His) rs754752494
NM_003289.4(TPM2):c.318G>A (p.Leu106=) rs2131853365
NM_003289.4(TPM2):c.321T>G (p.Ala107=)
NM_003289.4(TPM2):c.341AGG[1] (p.Glu115del) rs1554659007
NM_003289.4(TPM2):c.345G>C (p.Glu115Asp) rs2131853306
NM_003289.4(TPM2):c.346_347delinsAA (p.Ala116Asn)
NM_003289.4(TPM2):c.348C>G (p.Ala116=)
NM_003289.4(TPM2):c.360TGA[1] (p.Asp121del) rs1554658995
NM_003289.4(TPM2):c.362A>T (p.Asp121Val) rs1824862680
NM_003289.4(TPM2):c.364G>A (p.Glu122Lys) rs2131853219
NM_003289.4(TPM2):c.374+14T>C
NM_003289.4(TPM2):c.374+16G>C rs769858878
NM_003289.4(TPM2):c.374+3G>A rs768008767
NM_003289.4(TPM2):c.374+9G>A rs200730708
NM_003289.4(TPM2):c.375-11C>T rs2490683727
NM_003289.4(TPM2):c.375-15C>T rs2131852823
NM_003289.4(TPM2):c.379A>G (p.Met127Val) rs1824852204
NM_003289.4(TPM2):c.382A>G (p.Lys128Glu) rs1563929143
NM_003289.4(TPM2):c.388_390dup (p.Ile130dup) rs1824851546
NM_003289.4(TPM2):c.391G>A (p.Glu131Lys) rs1824851133
NM_003289.4(TPM2):c.391G>C (p.Glu131Gln)
NM_003289.4(TPM2):c.394_396dup (p.Asn132dup) rs2131852702
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003289.4(TPM2):c.398G>C (p.Arg133Pro) rs199476152
NM_003289.4(TPM2):c.40G>C (p.Asp14His)
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003289.4(TPM2):c.41A>T (p.Asp14Val) rs1825151618
NM_003289.4(TPM2):c.426A>G (p.Glu142=) rs374856808
NM_003289.4(TPM2):c.432G>A (p.Gln144=) rs1317838599
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr) rs1563929039
NM_003289.4(TPM2):c.464C>T (p.Ala155Val) rs1824846097
NM_003289.4(TPM2):c.470A>G (p.Asp157Gly) rs2490683212
NM_003289.4(TPM2):c.479G>T (p.Arg160Leu) rs745549628
NM_003289.4(TPM2):c.485A>T (p.Tyr162Phe) rs2490683136
NM_003289.4(TPM2):c.493-11_493-8del rs528068364
NM_003289.4(TPM2):c.493-20C>G
NM_003289.4(TPM2):c.493-2A>G rs2131851980
NM_003289.4(TPM2):c.493-7C>T rs1554658928
NM_003289.4(TPM2):c.507G>A (p.Leu169=) rs2490682335
NM_003289.4(TPM2):c.532C>T (p.Arg178Cys)
NM_003289.4(TPM2):c.533G>T (p.Arg178Leu) rs765802464
NM_003289.4(TPM2):c.555G>A (p.Val185=) rs1587957884
NM_003289.4(TPM2):c.562A>T (p.Ser188Cys) rs757545443
NM_003289.4(TPM2):c.563+13G>A rs200644786
NM_003289.4(TPM2):c.563+13G>T rs200644786
NM_003289.4(TPM2):c.564-13A>C
NM_003289.4(TPM2):c.564-18G>C rs756207778
NM_003289.4(TPM2):c.564-19C>T rs1374322376
NM_003289.4(TPM2):c.564-19_564-18insA rs1554658817
NM_003289.4(TPM2):c.564-19_564-18insT rs1554658817
NM_003289.4(TPM2):c.564-19del rs3215700
NM_003289.4(TPM2):c.564-19dup rs3215700
NM_003289.4(TPM2):c.564-20C>T rs763690941
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.564-20_564-19insT rs1563928166
NM_003289.4(TPM2):c.564-6dup rs1439651784
NM_003289.4(TPM2):c.564-9C>A
NM_003289.4(TPM2):c.565A>G (p.Lys189Glu) rs2131849903
NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr) rs1369077598
NM_003289.4(TPM2):c.577C>G (p.Leu193Val) rs1197396914
NM_003289.4(TPM2):c.589C>T (p.Leu197=) rs2131849835
NM_003289.4(TPM2):c.58G>C (p.Asp20His) rs1166342816
NM_003289.4(TPM2):c.5A>T (p.Asp2Val) rs199476145
NM_003289.4(TPM2):c.606C>A (p.Asn202Lys) rs137853307
NM_003289.4(TPM2):c.619C>T (p.Leu207=) rs2490677855
NM_003289.4(TPM2):c.620_631dup (p.Gln210_Ala211insValGluAlaGln) rs1587956195
NM_003289.4(TPM2):c.627C>G (p.Ala209=) rs2131849764
NM_003289.4(TPM2):c.635A>G (p.Asp212Gly) rs1554658784
NM_003289.4(TPM2):c.640-19GT[6] rs1824762591
NM_003289.4(TPM2):c.640-1G>A
NM_003289.4(TPM2):c.640-20C>A rs772078954
NM_003289.4(TPM2):c.640-9C>T rs1661588104
NM_003289.4(TPM2):c.643T>G (p.Ser215Ala) rs1189278905
NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter) rs1465836003
NM_003289.4(TPM2):c.663T>C (p.Tyr221=) rs1465836003
NM_003289.4(TPM2):c.672G>A (p.Glu224=) rs1794631531
NM_003289.4(TPM2):c.69G>A (p.Glu23=) rs2131865690
NM_003289.4(TPM2):c.702+17A>C rs1161008624
NM_003289.4(TPM2):c.703-3dup rs1554658707
NM_003289.4(TPM2):c.703-5C>T rs887809455
NM_003289.4(TPM2):c.703-9T>C rs2131848760
NM_003289.4(TPM2):c.719A>G (p.Glu240Gly) rs756671460
NM_003289.4(TPM2):c.729G>A (p.Glu243=) rs751675623
NM_003289.4(TPM2):c.743A>T (p.Lys248Met) rs2490675450
NM_003289.4(TPM2):c.760G>A (p.Asp254Asn) rs1419786293
NM_003289.4(TPM2):c.763G>A (p.Asp255Asn)
NM_003289.4(TPM2):c.773-10_773-9insCG rs1554658504
NM_003289.4(TPM2):c.773-11A>G
NM_003289.4(TPM2):c.773-11dup rs2490671042
NM_003289.4(TPM2):c.773-3del rs35401252
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003289.4(TPM2):c.773-5_773-3dup rs35401252
NM_003289.4(TPM2):c.773-5_773-4insT rs767660365
NM_003289.4(TPM2):c.773-7_773-6insCG rs750664741
NM_003289.4(TPM2):c.773-9C>A rs1175005753
NM_003289.4(TPM2):c.773-9C>G
NM_003289.4(TPM2):c.773-9_773-8insA rs756328776
NM_003289.4(TPM2):c.773-9_773-8insCA rs1554658503
NM_003289.4(TPM2):c.773-9_773-8insG rs756328776
NM_003289.4(TPM2):c.781T>C (p.Tyr261His) rs2490670727
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_003289.4(TPM2):c.81C>T (p.Ala27=) rs564977715
NM_003289.4(TPM2):c.830C>T (p.Ala277Val) rs1824673399
NM_003289.4(TPM2):c.834C>T (p.Leu278=)
NM_003289.4(TPM2):c.96T>A (p.Ala32=)
NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter) rs1567973091
NM_213674.1(TPM2):c.-118G>A rs986048371
NM_213674.1(TPM2):c.-142C>T rs1825166266

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