ClinVar Miner

Variants with conflicting interpretations between Athena Diagnostics Inc and Ambry Genetics

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
505 918 0 389 74 0 1 464

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0 0
uncertain significance 0 1 0 35 2
likely benign 0 0 18 0 31
benign 0 0 19 357 0

All variants with conflicting interpretations #

Total variants: 464
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000144.5(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000238.3(KCNH2):c.3153-4C>T rs181119727
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.7(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000756.4(CRH):c.456G>A (p.Arg152=) rs144205489
NM_000834.4(GRIN2B):c.228C>T (p.Thr76=) rs77299791
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) rs201253055
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) rs76882721
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) rs780535727
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001195553.2(DCX):c.948A>C (p.Ala316=) rs770799939
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001242897.2(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001242897.2(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084
NM_001242897.2(DEPDC5):c.2851A>G (p.Thr951Ala) rs537257402
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=) rs370480927
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510
NM_001958.4(EEF1A2):c.1266C>A (p.Gly422=) rs202102758
NM_001958.4(EEF1A2):c.1296G>A (p.Thr432=) rs200259257
NM_002087.3(GRN):c.1742A>T (p.Asp581Val) rs768223928
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002693.2(POLG):c.134A>G (p.Gln45Arg) rs201016638
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949
NM_003165.4(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.4(STXBP1):c.281C>T (p.Pro94Leu) rs200802985
NM_003165.4(STXBP1):c.627C>T (p.Leu209=) rs567071026
NM_003165.4(STXBP1):c.6C>T (p.Ala2=) rs144094037
NM_003165.4(STXBP1):c.888C>T (p.Ile296=) rs201302013
NM_003673.3(TCAP):c.353C>T (p.Ala118Val) rs143233087
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003793.4(CTSF):c.1158C>T (p.Asn386=) rs116329758
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys) rs573483617
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.3549T>C (p.His1183=) rs184931664
NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=) rs144520412
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004321.7(KIF1A):c.4614G>A (p.Leu1538=) rs187810230
NM_004321.7(KIF1A):c.4767G>A (p.Thr1589=) rs201733233
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) rs61734180
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303
NM_004976.4(KCNC1):c.1426G>A (p.Val476Ile) rs146311746
NM_004980.4(KCND3):c.1062C>A (p.Ile354=) rs150934088
NM_004980.4(KCND3):c.1292G>A (p.Arg431His) rs771703569
NM_004980.4(KCND3):c.1573A>G (p.Met525Val) rs145890206
NM_004980.4(KCND3):c.1959C>T (p.Ser653=) rs147087785
NM_004980.4(KCND3):c.5C>A (p.Ala2Glu) rs201340369
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.3495T>A (p.Ala1165=) rs142395521
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882
NM_005477.3(HCN4):c.1656C>T (p.His552=) rs148142070
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu) rs200814534
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_006279.5(ST3GAL3):c.1075C>T (p.Leu359=) rs200457973
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.4(CLN5):c.-87C>T rs200353554
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006516.3(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.3(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) rs145176345
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) rs141473515
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_018941.3(CLN8):c.546G>A (p.Ala182=) rs144047076
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020988.3(GNAO1):c.414A>G (p.Gln138=) rs141057479
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462
NM_021072.4(HCN1):c.1783+4C>T rs188586020
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110
NM_024665.6(TBL1XR1):c.291A>G (p.Gln97=) rs61750379
NM_024665.6(TBL1XR1):c.669A>G (p.Pro223=) rs61750378
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656
NM_030665.4(RAI1):c.2728T>G (p.Ser910Ala) rs745515458
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) rs111518952
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.3(CAV3):c.-1G>A rs74377241
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669
NM_052874.5(STX1B):c.837G>A (p.Ala279=) rs150313069
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
NM_080647.1(TBX1):c.567G>A (p.Thr189=) rs138724943
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655
NM_152778.3(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_172056.2(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_172056.2(KCNH2):c.621C>T (p.Ser207=) rs41314417
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314

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