ClinVar Miner

List of variants reported as likely pathogenic for ectodermal dysplasia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 415
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln) rs769617113 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_153717.3(EVC):c.2562-2A>G rs1293098417 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_001283009.2(RTEL1):c.1037+1G>T rs895722334 0.00001
NM_001283009.2(RTEL1):c.1266+2T>G rs1444392809 0.00001
NM_001283009.2(RTEL1):c.2142-2A>G rs2090696292 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_022336.4(EDAR):c.175-2A>G rs757233170 0.00001
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) rs755654853 0.00001
NM_024589.3(ROGDI):c.645+2T>A rs754417953 0.00001
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.2385+2T>C rs1597378045 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025216.3(WNT10A):c.1028C>T (p.Pro343Leu) rs1944675271 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3361-2del rs757914735 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_198253.3(TERT):c.1700C>T (p.Thr567Met) rs886039438 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) rs370445231 0.00001
NC_000001.10:g.(?_236631511)_(236631596_?)dup
NC_000003.11:g.(?_129168694)_(129236457_?)dup
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5612949)_(5633604_?)del
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5630338)_(5635928_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5733132)_(5735182_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5754598)_(5758602_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NC_000004.11:g.(?_5803694)_(5804872_?)del
NC_000005.9:g.(?_1282524)_(1282759_?)dup
NC_000006.11:g.(?_7552967)_(7579627_?)del
NC_000006.11:g.(?_7565582)_(7568149_?)del
NC_000006.11:g.(?_7576220)_(7581055_?)del
NC_000008.10:g.(?_116613171)_(116616277_?)del
NC_000016.9:g.(?_14645858)_(14649586_?)dup
NC_000016.9:g.(?_14645868)_(14711517_?)dup
NC_000016.9:g.(?_14693741)_(14704686_?)dup
NC_000016.9:g.(?_14711427)_(14711527_?)dup
NC_000020.10:g.(?_62292641)_(62327221_?)del
NC_000020.10:g.(?_62298812)_(62298916_?)dup
NC_000020.10:g.(?_62309488)_(62312082_?)dup
NC_000020.10:g.(?_62316041)_(62319096_?)del
NC_000020.10:g.(?_62324287)_(62324806_?)del
NC_000023.10:g.(?_69176857)_(69247906_?)dup
NM_000165.5(GJA1):c.121G>C (p.Val41Leu)
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) rs1773899790
NM_000165.5(GJA1):c.196T>C (p.Tyr66His) rs2114283106
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)
NM_000165.5(GJA1):c.246C>G (p.Ile82Met) rs1773901440
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) rs1554201019
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)
NM_000165.5(GJA1):c.577C>G (p.Pro193Ala) rs1773907180
NM_001006657.2(WDR35):c.1195-2A>T
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)
NM_001283009.2(RTEL1):c.1038-2A>G
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1191+1G>A rs2090461817
NM_001283009.2(RTEL1):c.1191+1G>C rs2090461817
NM_001283009.2(RTEL1):c.1192-2A>G rs2145411185
NM_001283009.2(RTEL1):c.1228_1266+39del rs2090573767
NM_001283009.2(RTEL1):c.1236_1266+47del rs1568703403
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1348+1G>T rs2145412626
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.1595+1G>A rs2145421181
NM_001283009.2(RTEL1):c.1595_1595+8del
NM_001283009.2(RTEL1):c.1596-1G>A rs1555811386
NM_001283009.2(RTEL1):c.1596-1_1596delinsAA rs1601163764
NM_001283009.2(RTEL1):c.2026-1G>T
NM_001283009.2(RTEL1):c.2026-2A>G
NM_001283009.2(RTEL1):c.2142-1G>T
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2266-2A>G
NM_001283009.2(RTEL1):c.2413+1G>A
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2413+1G>T
NM_001283009.2(RTEL1):c.2557-1G>A
NM_001283009.2(RTEL1):c.2557-2A>G
NM_001283009.2(RTEL1):c.2782_2992+170del rs2090789401
NM_001283009.2(RTEL1):c.2851+1G>A rs1421904176
NM_001283009.2(RTEL1):c.2852-1G>A
NM_001283009.2(RTEL1):c.2852-2A>C
NM_001283009.2(RTEL1):c.2992+1G>A rs1370553261
NM_001283009.2(RTEL1):c.2992+1G>C
NM_001283009.2(RTEL1):c.2992+2T>A
NM_001283009.2(RTEL1):c.2992+492_3068del
NM_001283009.2(RTEL1):c.301+1G>A rs2146149228
NM_001283009.2(RTEL1):c.301+1G>C
NM_001283009.2(RTEL1):c.302-8_303del rs2090026700
NM_001283009.2(RTEL1):c.3109+1G>T
NM_001283009.2(RTEL1):c.3109+2T>C
NM_001283009.2(RTEL1):c.3109+2T>G
NM_001283009.2(RTEL1):c.3110-1G>A
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3343+1G>C rs2145476311
NM_001283009.2(RTEL1):c.3343+1G>T rs2145476311
NM_001283009.2(RTEL1):c.3499+1G>A
NM_001283009.2(RTEL1):c.3499+2T>C
NM_001283009.2(RTEL1):c.3500-1G>A rs1205986855
NM_001283009.2(RTEL1):c.3787del (p.Gln1263fs) rs2145480981
NM_001283009.2(RTEL1):c.395+1G>T
NM_001283009.2(RTEL1):c.396-2A>G
NM_001283009.2(RTEL1):c.477+1G>A
NM_001283009.2(RTEL1):c.919+2T>C
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)
NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser) rs132630317
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys) rs2147519167
NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr) rs749830948
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser) rs2020256386
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr) rs2020256932
NM_001399.5(EDA):c.133G>C (p.Gly45Arg)
NM_001399.5(EDA):c.163C>G (p.Leu55Val) rs1602221926
NM_001399.5(EDA):c.170C>G (p.Thr57Arg)
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn) rs132630308
NM_001399.5(EDA):c.473A>G (p.Lys158Arg) rs982209417
NM_001399.5(EDA):c.476G>C (p.Arg159Thr) rs1556039084
NM_001399.5(EDA):c.503-2del rs1602614385
NM_001399.5(EDA):c.526+5G>A rs397516664
NM_001399.5(EDA):c.526+5G>T rs397516664
NM_001399.5(EDA):c.565G>A (p.Gly189Arg)
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.608C>T (p.Pro203Leu) rs2020138975
NM_001399.5(EDA):c.611G>A (p.Gly204Glu)
NM_001399.5(EDA):c.617C>T (p.Pro206Leu) rs1057520742
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_001399.5(EDA):c.625C>T (p.Pro209Ser)
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.641T>A (p.Met214Lys) rs1569404950
NM_001399.5(EDA):c.644G>A (p.Gly215Glu)
NM_001399.5(EDA):c.658C>G (p.Pro220Ala)
NM_001399.5(EDA):c.764G>A (p.Gly255Asp) rs1064793105
NM_001399.5(EDA):c.794-1G>A rs2147516240
NM_001399.5(EDA):c.805G>A (p.Gly269Arg)
NM_001399.5(EDA):c.826C>G (p.Arg276Gly)
NM_001399.5(EDA):c.836T>G (p.Met279Arg)
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.895G>T (p.Gly299Cys)
NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)
NM_001399.5(EDA):c.935T>C (p.Ile312Thr) rs1791938725
NM_001399.5(EDA):c.948C>G (p.Asp316Glu)
NM_001399.5(EDA):c.958T>C (p.Tyr320His)
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp) rs1416551006
NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)
NM_001399.5(EDA):c.959A>G (p.Tyr320Cys)
NM_001399.5(EDA):c.986T>G (p.Phe329Cys)
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr) rs1602624745
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.485+1G>A
NM_001814.6(CTSC):c.486-25_492del
NM_001814.6(CTSC):c.641+1G>A
NM_001814.6(CTSC):c.642-2A>G
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.757+1G>T
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
NM_002582.4(PARN):c.1005+2T>A
NM_002582.4(PARN):c.1262+2T>C
NM_002582.4(PARN):c.1263-11_1269del rs2151711045
NM_002582.4(PARN):c.1263-1G>A
NM_002582.4(PARN):c.1318+2T>C
NM_002582.4(PARN):c.1405+1G>T rs1288345334
NM_002582.4(PARN):c.1481-1G>A
NM_002582.4(PARN):c.1481-2A>G
NM_002582.4(PARN):c.1670+1G>T rs1963445391
NM_002582.4(PARN):c.1671-1G>T
NM_002582.4(PARN):c.177+1G>A
NM_002582.4(PARN):c.328-2A>G
NM_002582.4(PARN):c.555-2A>G rs2151795442
NM_002582.4(PARN):c.620+5G>A rs1971361795
NM_002582.4(PARN):c.784-1G>A
NM_002582.4(PARN):c.841-2A>G rs2151767204
NM_002582.4(PARN):c.97+2T>C
NM_004415.4(DSP):c.1045-1G>C
NM_004415.4(DSP):c.1141-1G>A rs2113673067
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1420-1G>A
NM_004415.4(DSP):c.1420-1G>T rs1060500609
NM_004415.4(DSP):c.1420-2A>G
NM_004415.4(DSP):c.1574+1G>A rs1758971797
NM_004415.4(DSP):c.1574+1G>C rs1758971797
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.170+1dup
NM_004415.4(DSP):c.1701+2T>A
NM_004415.4(DSP):c.1701+2T>C
NM_004415.4(DSP):c.1702-1G>T
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1903+1G>T
NM_004415.4(DSP):c.1904-2A>G rs2113679702
NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.2297+1G>A rs1057523629
NM_004415.4(DSP):c.2297+2T>C rs796218194
NM_004415.4(DSP):c.2298-1G>C rs1417627909
NM_004415.4(DSP):c.2298-2A>C rs1759176299
NM_004415.4(DSP):c.2436+1G>A rs2113684305
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.273+1G>A rs794728106
NM_004415.4(DSP):c.2793+1G>T rs1554107741
NM_004415.4(DSP):c.2794-1G>A rs1759258675
NM_004415.4(DSP):c.2877+1G>A rs2113687794
NM_004415.4(DSP):c.2877+2T>C rs2113687807
NM_004415.4(DSP):c.422+1G>A
NM_004415.4(DSP):c.422+2T>G rs2113657846
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.423-2A>G rs2113659544
NM_004415.4(DSP):c.597+1G>A rs2113660108
NM_004415.4(DSP):c.597+2T>C
NM_004415.4(DSP):c.777+2T>C
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.8192_8199del (p.Tyr2731fs)
NM_004415.4(DSP):c.940-2del rs2113670901
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287
NM_014112.5(TRPS1):c.1919_2096+2929del
NM_014112.5(TRPS1):c.2097-2A>C
NM_014112.5(TRPS1):c.2700+1G>C
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr) rs1812971156
NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu) rs2129751692
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) rs1586249260
NM_014112.5(TRPS1):c.967-1G>T rs2130494791
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+2T>G
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
NM_022336.4(EDAR):c.1181G>A (p.Gly394Asp)
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
NM_022336.4(EDAR):c.1213G>A (p.Gly405Ser)
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg) rs1696610650
NM_022336.4(EDAR):c.1258C>T (p.Arg420Trp)
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met) rs1696608635
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) rs1553444917
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser) rs1696805635
NM_024589.3(ROGDI):c.118-2A>C
NM_024589.3(ROGDI):c.118-2A>G rs1060502981
NM_024589.3(ROGDI):c.201-1G>C rs1473111275
NM_024589.3(ROGDI):c.319_336+64del
NM_024589.3(ROGDI):c.329_336+5del rs2082701593
NM_024589.3(ROGDI):c.337-2A>G rs774701696
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154
NM_024589.3(ROGDI):c.46-2A>G
NM_024589.3(ROGDI):c.532-2A>G
NM_025099.6(CTC1):c.1077+1G>A
NM_025099.6(CTC1):c.1207-1G>C
NM_025099.6(CTC1):c.1617+1G>T rs1201400384
NM_025099.6(CTC1):c.2385+1G>C rs2151508864
NM_025099.6(CTC1):c.3157-2A>C
NM_025099.6(CTC1):c.3221+1G>A rs766644829
NM_025099.6(CTC1):c.3221+2T>C
NM_025099.6(CTC1):c.33+2T>G rs2151564155
NM_025099.6(CTC1):c.3387+1G>A rs1242486415
NM_025099.6(CTC1):c.3387+1G>C
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.436-1G>A
NM_025216.3(WNT10A):c.-17_13del (p.Met1_His5del) rs746813123
NM_025216.3(WNT10A):c.1079G>C (p.Arg360Pro) rs893127185
NM_025216.3(WNT10A):c.113+1G>A
NM_025216.3(WNT10A):c.274G>A (p.Ala92Thr)
NM_025216.3(WNT10A):c.318C>G (p.Asn106Lys) rs1283426045
NM_025216.3(WNT10A):c.322T>C (p.Ser108Pro) rs1249944381
NM_025216.3(WNT10A):c.3G>A (p.Met1Ile)
NM_025216.3(WNT10A):c.662G>T (p.Gly221Val)
NM_052989.3(IFT122):c.1148-2A>G
NM_052989.3(IFT122):c.193+2T>G
NM_052989.3(IFT122):c.2791+1G>A
NM_052989.3(IFT122):c.3265+1G>A
NM_052989.3(IFT122):c.349+1G>A rs1559869525
NM_052989.3(IFT122):c.416+2T>G rs2108101855
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) rs879255629
NM_147127.5(EVC2):c.1005+1G>A
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.1146-2A>T
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+2T>C
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3361-255_3481del
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.1098+1G>A
NM_153717.3(EVC):c.1099-1G>A
NM_153717.3(EVC):c.1099-2A>C
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1465-1G>A rs1731156302
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.1776+2T>C
NM_153717.3(EVC):c.1886+1G>C rs753679094
NM_153717.3(EVC):c.1886+2T>G rs1713228964
NM_153717.3(EVC):c.1887-2A>T
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.2097+1G>A
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2097+2del rs2152340942
NM_153717.3(EVC):c.2098-2A>G rs1714398710
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2677_2688+7del rs2152387946
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+2T>G
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
NM_153717.3(EVC):c.300+1G>T
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.385-1G>A
NM_153717.3(EVC):c.56_174+42del
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+2T>A
NM_153717.3(EVC):c.703-1G>C rs1485152854
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801+2T>C
NM_153717.3(EVC):c.802-2A>G
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.940-150T>G rs576076928
NM_198253.3(TERT):c.1573+2T>A
NM_198253.3(TERT):c.1574-1G>A rs1750106866
NM_198253.3(TERT):c.1574-1G>C
NM_198253.3(TERT):c.1769+2T>C
NM_198253.3(TERT):c.2053G>A (p.Asp685Asn) rs1579575848
NM_198253.3(TERT):c.2105C>G (p.Pro702Arg)
NM_198253.3(TERT):c.2130+1G>A
NM_198253.3(TERT):c.2130+1G>C
NM_198253.3(TERT):c.2130+2T>G
NM_198253.3(TERT):c.2131-2A>G
NM_198253.3(TERT):c.219+1G>A rs199422309
NM_198253.3(TERT):c.2286+1G>A rs1749780301
NM_198253.3(TERT):c.2286+1G>T
NM_198253.3(TERT):c.2382+1G>C rs1749089374
NM_198253.3(TERT):c.2382+1G>T
NM_198253.3(TERT):c.2382+235_2453del
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro) rs1561194110
NM_198253.3(TERT):c.2594G>T (p.Arg865Leu)
NM_198253.3(TERT):c.2654+1G>C
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.3(TERT):c.293C>A (p.Ala98Asp)
NM_198253.3(TERT):c.2970+1G>A
NM_198253.3(TERT):c.2970+2T>G rs2126584187
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.3032+1G>C
NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr) rs770144114
NM_198253.3(TERT):c.3157+1G>T rs2126562296
NM_198253.3(TERT):c.3158-2A>C
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser) rs938938578
NM_198253.3(TERT):c.329G>C (p.Gly110Ala) rs1751262771
NM_198253.3(TERT):c.329G>T (p.Gly110Val)
NM_198253.3(TERT):c.359G>C (p.Arg120Pro) rs1554043083
NR_001566.3(TERC):n.113_114delTT

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