ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
464 1467 0 190 143 1 20 354

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 risk factor
pathogenic 0 6 7 1 0 1
likely pathogenic 3 0 7 1 0 0
uncertain significance 1 3 0 69 12 0
likely benign 0 0 38 0 79 0
benign 0 0 24 102 0 0

All variants with conflicting interpretations #

Total variants: 354
Download table as spreadsheet
HGVS dbSNP
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000138.4(FBN1):c.3082+8del rs193922196
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.5(FBN1):c.5065+10A>G rs375945405
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.3(MSH2):c.1511-41G>C rs202215396
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001035.3(RYR2):c.11246-11del rs397516503
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419
NM_001035.3(RYR2):c.4596+12G>A rs148557427
NM_001035.3(RYR2):c.774-14G>T rs370114411
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001126049.2(KLLN):c.-898G>A rs538728843
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.11311+2573T>C rs72647897
NM_001267550.2(TTN):c.11311+4672C>T rs149748934
NM_001267550.2(TTN):c.11312-4319G>A rs72648913
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.14935+9C>T rs544241749
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722
NM_001267550.2(TTN):c.26201-11dup rs727503644
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827
NM_001267550.2(TTN):c.51739+14C>A rs727505018
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430
NM_001267550.2(TTN):c.69716-5C>G rs72646886
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1890A>G (p.Gln630=) rs141791080
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001370259.2(MEN1):c.-22C>A rs374749001
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002230.4(JUP):c.1159-13C>A rs201627219
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481
NM_002473.6(MYH9):c.4344+10C>T rs200977419
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_003000.3(SDHB):c.423+20T>A rs190139590
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003924.3(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.2(DMD):c.3326A>T (p.Asn1109Ile) rs200596739
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004895.4(NLRP3):c.214G>A (p.Val72Met) rs117287351
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775
NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met) rs139814109
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) rs77573084
NM_005691.3(ABCC9):c.2093-7T>C rs185235724
NM_005691.3(ABCC9):c.407-14C>A rs201279882
NM_005691.3(ABCC9):c.817-7del rs193922684
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006231.4(POLE):c.2174-8G>A rs117409343
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268
NM_007078.3(LDB3):c.690-4823G>A rs121908338
NM_007078.3(LDB3):c.896+6731C>T rs372789789
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_020975.6(RET):c.1522+35C>T rs377130948
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024009.3(GJB3):c.589G>A (p.Val197Ile) rs376506263
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872
NM_032119.4(ADGRV1):c.22+9T>C rs368604803
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460
NM_053025.4(MYLK):c.4620-6C>T rs113607507
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.2215-80T>C rs143141993
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.9258+3T>C rs1553268427
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747

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