ClinVar Miner

List of variants reported as likely benign for connective tissue neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 288
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.429+18T>C rs141451003 0.02288
NM_002520.7(NPM1):c.847-5T>C rs191111314 0.01680
NM_004752.4(GCM2):c.1060A>G (p.Met354Val) rs61734278 0.01292
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01167
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_002520.7(NPM1):c.543T>C (p.Phe181=) rs61755048 0.00991
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_022124.6(CDH23):c.4846-19G>C rs80261750 0.00835
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_005157.6(ABL1):c.1899C>T (p.Ala633=) rs2229068 0.00732
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_004327.4(BCR):c.606C>T (p.Ser202=) rs147507158 0.00655
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) rs200430001 0.00433
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_006185.4(NUMA1):c.2937T>C (p.Asn979=) rs142372284 0.00416
NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His) rs149588226 0.00414
NM_005157.6(ABL1):c.249T>G (p.Thr83=) rs111886835 0.00382
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) rs143240262 0.00376
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_005157.6(ABL1):c.822+16C>G rs12551730 0.00309
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp) rs114070356 0.00258
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu) rs139186585 0.00143
NM_004752.4(GCM2):c.306G>A (p.Arg102=) rs149143032 0.00142
NM_015922.3(NSDHL):c.306C>T (p.Phe102=) rs141089248 0.00138
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_015922.3(NSDHL):c.834C>T (p.Phe278=) rs149698967 0.00057
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_022124.6(CDH23):c.832+8A>G rs56129333 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534 0.00039
NM_024529.5(CDC73):c.873C>T (p.Asn291=) rs149400412 0.00036
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
NM_001042492.3(NF1):c.61-19T>C rs185325140 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00024
NM_000516.7(GNAS):c.312+17T>C rs78999525 0.00022
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_015922.3(NSDHL):c.987C>T (p.Val329=) rs149122192 0.00017
NM_000388.4(CASR):c.27C>T (p.Val9=) rs141880581 0.00016
NM_000222.3(KIT):c.2502G>A (p.Lys834=) rs146992614 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_001042492.3(NF1):c.3871-15C>T rs200104394 0.00014
NM_005157.6(ABL1):c.2117G>T (p.Gly706Val) rs34634745 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=) rs201584313 0.00012
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_000388.4(CASR):c.1788C>T (p.Thr596=) rs142778221 0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=) rs140586950 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_005188.4(CBL):c.2349C>T (p.Ala783=) rs552509693 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_000388.4(CASR):c.825T>C (p.Asp275=) rs199836910 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_000388.4(CASR):c.1554A>G (p.Gly518=) rs138099808 0.00006
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_024529.5(CDC73):c.333C>T (p.Ser111=) rs374834265 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_000516.7(GNAS):c.1039-4G>A rs575570315 0.00005
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=) rs201648604 0.00005
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000222.3(KIT):c.840G>C (p.Ala280=) rs142772432 0.00004
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_001042492.3(NF1):c.2592C>T (p.Ser864=) rs761499485 0.00004
NM_001042492.3(NF1):c.3708+11A>C rs373751277 0.00004
NM_001042492.3(NF1):c.4835+13A>G rs1034258238 0.00004
NM_001042492.3(NF1):c.4835+14T>C rs758851307 0.00004
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=) rs373685150 0.00004
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=) rs375776474 0.00004
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00004
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=) rs371578074 0.00004
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=) rs769628054 0.00004
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_004752.4(GCM2):c.318C>T (p.Cys106=) rs749600723 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_001042492.3(NF1):c.1182T>C (p.Phe394=) rs786202581 0.00003
NM_001042492.3(NF1):c.2916A>C (p.Leu972=) rs1210119104 0.00003
NM_001042492.3(NF1):c.5269-18G>A rs371616556 0.00003
NM_001042492.3(NF1):c.7189+7A>G rs767151173 0.00003
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=) rs143289497 0.00003
NM_005188.4(CBL):c.1353C>T (p.Pro451=) rs201616881 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_000388.4(CASR):c.1377+17T>C rs200650843 0.00002
NM_000388.4(CASR):c.675A>G (p.Lys225=) rs202226622 0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541 0.00002
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=) rs747330799 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.587-20A>T rs776533188 0.00002
NM_001042492.3(NF1):c.7615+7T>C rs779078444 0.00002
NM_001042492.3(NF1):c.8160+9A>C rs997202389 0.00002
NM_001042492.3(NF1):c.8385C>T (p.Asp2795=) rs144635489 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_005188.4(CBL):c.1927C>T (p.Leu643=) rs139939244 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_000127.3(EXT1):c.1839G>A (p.Thr613=) rs765677175 0.00001
NM_000222.3(KIT):c.531C>T (p.Arg177=) rs756722358 0.00001
NM_000388.4(CASR):c.1452C>T (p.Asp484=) rs776775141 0.00001
NM_000388.4(CASR):c.1887T>C (p.Phe629=) rs750220557 0.00001
NM_000388.4(CASR):c.2046G>A (p.Pro682=) rs760450976 0.00001
NM_000388.4(CASR):c.2139C>T (p.Ser713=) rs200384325 0.00001
NM_000388.4(CASR):c.2994G>A (p.Leu998=) rs200260696 0.00001
NM_000388.4(CASR):c.3018G>A (p.Thr1006=) rs748637478 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000388.4(CASR):c.738C>T (p.Tyr246=) rs895337411 0.00001
NM_000388.4(CASR):c.813C>A (p.Ser271=) rs759939185 0.00001
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) rs749235261 0.00001
NM_000516.7(GNAS):c.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.660-15C>A rs755766644 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 0.00001
NM_001042492.3(NF1):c.1062+7T>C rs979521240 0.00001
NM_001042492.3(NF1):c.1185+7G>A rs1322791959 0.00001
NM_001042492.3(NF1):c.1186-12C>G rs1473811436 0.00001
NM_001042492.3(NF1):c.1356A>G (p.Gln452=) rs1324833228 0.00001
NM_001042492.3(NF1):c.3198-4_3198-3dup rs1555614809 0.00001
NM_001042492.3(NF1):c.3871-18A>G rs748424913 0.00001
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=) rs864622406 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=) rs754023358 0.00001
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=) rs864622747 0.00001
NM_001042492.3(NF1):c.5269-19C>T rs755620051 0.00001
NM_001042492.3(NF1):c.60+11C>T rs565515877 0.00001
NM_001042492.3(NF1):c.6006+17A>G rs748186225 0.00001
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=) rs780247942 0.00001
NM_001042492.3(NF1):c.6922-8T>C rs191255643 0.00001
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=) rs1350755921 0.00001
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=) rs762081710 0.00001
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=) rs759005886 0.00001
NM_001042492.3(NF1):c.7533C>T (p.Val2511=) rs760733171 0.00001
NM_001042492.3(NF1):c.7615+19T>C rs773687866 0.00001
NM_001042492.3(NF1):c.7869+9T>C rs940367528 0.00001
NM_001042492.3(NF1):c.7970+16T>G rs967311672 0.00001
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=) rs547090599 0.00001
NM_001042492.3(NF1):c.889-6del rs864622362 0.00001
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.874C>T (p.Leu292=) rs930267460 0.00001
NM_003977.4(AIP):c.792C>T (p.Asn264=) rs780707460 0.00001
NM_015922.3(NSDHL):c.612C>T (p.Phe204=) rs782252634 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_024529.5(CDC73):c.1551A>G (p.Thr517=) rs752668844 0.00001
NM_024529.5(CDC73):c.1559+20A>G rs1281829953 0.00001
NM_024529.5(CDC73):c.280C>T (p.Leu94=) rs747811573 0.00001
NM_024529.5(CDC73):c.315G>A (p.Ser105=) rs771258964 0.00001
NM_024529.5(CDC73):c.370+17A>G rs760583012 0.00001
NM_024529.5(CDC73):c.519G>A (p.Leu173=) rs749039338 0.00001
NM_024529.5(CDC73):c.730-14C>G rs183077646 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_000038.6(APC):c.422+10C>G rs899376835
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000388.4(CASR):c.1116C>T (p.Thr372=) rs539867627
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.2439C>T (p.Ile813=) rs1228810304
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.493-12G>T rs199514129
NM_000388.4(CASR):c.54T>G (p.Ser18=) rs558522564
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762
NM_001042492.3(NF1):c.1186-6C>T rs200684215
NM_001042492.3(NF1):c.1509T>C (p.Asp503=) rs1597698493
NM_001042492.3(NF1):c.2001+11_2001+13del rs750468034
NM_001042492.3(NF1):c.2252-18G>C rs754583248
NM_001042492.3(NF1):c.2586C>T (p.Thr862=) rs1567848941
NM_001042492.3(NF1):c.2694G>A (p.Leu898=) rs1060503923
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_001042492.3(NF1):c.3496+14A>G rs2151434934
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=) rs549058591
NM_001042492.3(NF1):c.4074C>A (p.Pro1358=) rs757398594
NM_001042492.3(NF1):c.4110+15A>G rs1331795815
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=) rs775018971
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=) rs2151537601
NM_001042492.3(NF1):c.5813-12A>G rs768741646
NM_001042492.3(NF1):c.6007-9_6007-7del rs1274172088
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=) rs2069671357
NM_001042492.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_001042492.3(NF1):c.6428-7C>G rs1597843613
NM_001042492.3(NF1):c.7062+12_7062+13del rs753202735
NM_001042492.3(NF1):c.731-16T>C rs1227193781
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=) rs1597866857
NM_001042492.3(NF1):c.7971-8dup rs564545012
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=) rs1597883029
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=) rs1459260782
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup) rs551375300
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu) rs141188465
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_005157.6(ABL1):c.2035T>G (p.Ser679Ala) rs201278085
NM_005188.4(CBL):c.107ACC[6] (p.His42del) rs373212940
NM_015922.3(NSDHL):c.268-15dup rs782031217
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_024529.5(CDC73):c.132-17T>G rs2103113863
NM_024529.5(CDC73):c.829-5dup rs755393679
NM_024529.5(CDC73):c.908-6del rs563805986
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594

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