ClinVar Miner

Variants with conflicting interpretations between Eurofins Ntd Llc (ga) and Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
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
0 495 0 106 129 3 24 259

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
pathogenic 0 5 7 0 0
likely pathogenic 6 0 5 0 0
uncertain significance 5 8 0 83 40
likely benign 1 0 6 0 82
benign 2 0 1 13 0
other 1 1 1 0 1

All variants with conflicting interpretations #

Total variants: 259
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NC_000007.14:g.117479634A>G rs185028612 0.00200
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000384.3(APOB):c.751G>A (p.Ala251Thr) rs61741625 0.00190
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_002691.4(POLD1):c.612C>T (p.His204=) rs147881471 0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_004656.4(BAP1):c.186C>T (p.Val62=) rs199608453 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_002691.4(POLD1):c.1503C>T (p.Asn501=) rs371647100 0.00007
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=) rs375084663 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_000016.6(ACADM):c.388-14A>G rs372525651 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_007294.4(BRCA1):c.4251G>A (p.Val1417=) rs777057839 0.00003
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=) rs786201236 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.222T>C (p.Asp74=) rs755073786 0.00001
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met) rs775869914 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064 0.00001
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=) rs758515222 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=) rs786201224 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000264.5(PTCH1):c.-24GGC[9] rs71366293
NM_000264.5(PTCH1):c.343G>T (p.Gly115Ter) rs794727242
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
Single allele

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