ClinVar Miner

List of variants reported as likely pathogenic for cerebellar degeneration by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 482
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001382391.1(CSPP1):c.2128+1G>A rs199791452 0.00009
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg) rs587779812 0.00003
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln) rs587782202 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001329943.3(KIAA0586):c.411-1486G>A rs982449380 0.00003
NM_182961.4(SYNE1):c.17682+1G>A rs1064796579 0.00003
NM_182961.4(SYNE1):c.24129+2T>C rs544985182 0.00003
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys) rs772739103 0.00002
NM_000051.4(ATM):c.186-1G>A rs1259911051 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.497-1G>A rs778624615 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6573-2A>C rs751168951 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.6975+5G>T rs575354684 0.00001
NM_000051.4(ATM):c.6975+5del rs1442949382 0.00001
NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu) rs786203697 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala) rs745775382 0.00001
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile) rs370152402 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000784.4(CYP27A1):c.1017+1G>A rs1943742261 0.00001
NM_001044385.3(TMEM237):c.136+1G>T rs778823927 0.00001
NM_001329943.3(KIAA0586):c.1885-2A>G rs1431898844 0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738 0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G rs763815640 0.00001
NM_001382391.1(CSPP1):c.1497-2A>C rs766633448 0.00001
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg) rs183776349 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_018718.3(CEP41):c.278-1G>A rs1796956272 0.00001
NM_182961.4(SYNE1):c.6723+1G>C rs779302145 0.00001
NC_000002.11:g.(?_219679083)_(219679753_?)del
NC_000002.11:g.(?_219679093)_(219679763_?)del
NC_000006.11:g.(?_152466612)_(152643033_?)dup
NC_000006.11:g.(?_152570395)_(152837167_?)del
NC_000006.11:g.(?_152652198)_(152658654_?)del
NC_000006.11:g.(?_152716631)_(152765733_?)dup
NC_000008.10:g.(?_68018120)_(68071392_?)dup
NC_000008.10:g.(?_68024187)_(68044335_?)dup
NC_000008.10:g.(?_68061998)_(68089981_?)dup
NC_000008.10:g.(?_68102865)_(68103014_?)dup
NC_000011.10:g.(?_108235664)_(108235840_?)del
NC_000011.10:g.(?_108243943)_(108249112_?)del
NC_000011.10:g.(?_108246954)_(108289811_?)dup
NC_000011.10:g.(?_108284217)_(108284483_?)dup
NC_000011.10:g.(?_108292619)_(108299885_?)del
NC_000011.10:g.(?_108294917)_(108295069_?)dup
NC_000011.10:g.(?_108299704)_(108304862_?)del
NC_000011.10:g.(?_108327645)_(108331557_?)del
NC_000011.10:g.(?_108334959)_(108354884_?)del
NC_000011.10:g.(?_108334963)_(108354880_?)del
NC_000011.9:g.(?_108099886)_(108143599_?)del
NC_000011.9:g.(?_108106377)_(108143599_?)dup
NC_000011.9:g.(?_108106387)_(108106571_?)del
NC_000011.9:g.(?_108106387)_(108119839_?)dup
NC_000011.9:g.(?_108114117)_(108115618_?)del
NC_000011.9:g.(?_108114670)_(108225611_?)dup
NC_000011.9:g.(?_108114674)_(108225607_?)dup
NC_000011.9:g.(?_108115586)_(108118919_?)del
NC_000011.9:g.(?_108117671)_(108119849_?)dup
NC_000011.9:g.(?_108117671)_(108160548_?)dup
NC_000011.9:g.(?_108119686)_(108120192_?)del
NC_000011.9:g.(?_108122622)_(108131084_?)del
NC_000011.9:g.(?_108124463)_(108126942_?)del
NC_000011.9:g.(?_108124521)_(108150355_?)dup
NC_000011.9:g.(?_108129693)_(108160548_?)dup
NC_000011.9:g.(?_108137888)_(108138753_?)dup
NC_000011.9:g.(?_108139185)_(108143458_?)del
NC_000011.9:g.(?_108150208)_(108168119_?)dup
NC_000011.9:g.(?_108150208)_(108225611_?)dup
NC_000011.9:g.(?_108150557)_(108153493_?)del
NC_000011.9:g.(?_108151710)_(108192157_?)dup
NC_000011.9:g.(?_108154055)_(108160452_?)del
NC_000011.9:g.(?_108159694)_(108225611_?)dup
NC_000011.9:g.(?_108163326)_(108170632_?)del
NC_000011.9:g.(?_108163336)_(108170622_?)del
NC_000011.9:g.(?_108163340)_(108170618_?)del
NC_000011.9:g.(?_108178614)_(108183235_?)dup
NC_000011.9:g.(?_108183089)_(108225611_?)dup
NC_000011.9:g.(?_108196027)_(108199975_?)del
NC_000011.9:g.(?_108198469)_(108225601_?)dup
NC_000011.9:g.(?_108206566)_(108206694_?)del
NC_000011.9:g.(?_108206635)_(108211067_?)del
NC_000011.9:g.(?_108213939)_(108225611_?)del
NC_000011.9:g.(?_108217996)_(108218102_?)del
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000016.10:g.(?_78278583)_(78432772_?)del
NC_000016.10:g.(?_78432468)_(78432772_?)del
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NC_000016.9:g.(?_78143655)_(78466669_?)dup
NC_000016.9:g.(?_78148926)_(78166880_?)del
NC_000016.9:g.(?_78420737)_(78420865_?)dup
NC_000016.9:g.(?_78458747)_(78466669_?)dup
NM_000051.3(ATM):c.2467-?_8850+?dup6384
NM_000051.4(ATM):c.1066-1G>A rs876660038
NM_000051.4(ATM):c.1066-1_1081del rs2135289838
NM_000051.4(ATM):c.1066-3_1072del rs1591517089
NM_000051.4(ATM):c.1092_1235+363del rs1591517314
NM_000051.4(ATM):c.1092_1235+363delinsCTT
NM_000051.4(ATM):c.1235+1G>A rs1555069881
NM_000051.4(ATM):c.1235+1G>C
NM_000051.4(ATM):c.1235+2T>C rs2135296157
NM_000051.4(ATM):c.1235G>C (p.Trp412Ser) rs587779813
NM_000051.4(ATM):c.1236-2del rs1565381646
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.1608-1G>C rs1565385010
NM_000051.4(ATM):c.1608-2A>C rs2135338498
NM_000051.4(ATM):c.1668_2466+1284del
NM_000051.4(ATM):c.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1799_1802+5del rs781244480
NM_000051.4(ATM):c.1803-1G>A
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.186-2A>G rs2078881350
NM_000051.4(ATM):c.1899-1_1902del
NM_000051.4(ATM):c.1899-3_1899-2delinsTG
NM_000051.4(ATM):c.1899-8_1904del rs2080290215
NM_000051.4(ATM):c.2074_2124+280del
NM_000051.4(ATM):c.2124+1G>A rs1555073553
NM_000051.4(ATM):c.2124+1G>T rs1555073553
NM_000051.4(ATM):c.2124+1del rs2080318979
NM_000051.4(ATM):c.2125-15_2128del rs1064792940
NM_000051.4(ATM):c.2125-1G>A rs1402299151
NM_000051.4(ATM):c.2125-2A>C rs1565394403
NM_000051.4(ATM):c.2125-2_2128del rs2135391894
NM_000051.4(ATM):c.2251-8_2254del
NM_000051.4(ATM):c.2369_2376+12del
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.2376+1G>C rs730881347
NM_000051.4(ATM):c.2376+1G>T rs730881347
NM_000051.4(ATM):c.2376+2T>C rs2135408476
NM_000051.4(ATM):c.2376+2T>G
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2377-2A>T rs1057516553
NM_000051.4(ATM):c.2466+2T>A rs878853495
NM_000051.4(ATM):c.2466+2T>C
NM_000051.4(ATM):c.2466+2T>G rs878853495
NM_000051.4(ATM):c.2467-1G>A rs1328985852
NM_000051.4(ATM):c.2467-2A>T rs1555082050
NM_000051.4(ATM):c.2639-2A>G rs1591593566
NM_000051.4(ATM):c.2838+1G>A rs1555083469
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2838+2T>A
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3153+1G>A rs2081646501
NM_000051.4(ATM):c.3153+1G>T rs2081646501
NM_000051.4(ATM):c.3153+2T>C rs2135566959
NM_000051.4(ATM):c.3154-1_3154delinsTT rs2081657007
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+1G>C rs864622129
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.332-3_347del
NM_000051.4(ATM):c.3402+1G>A rs1565439606
NM_000051.4(ATM):c.3402+1G>T rs1565439606
NM_000051.4(ATM):c.3403-1G>A rs1555091120
NM_000051.4(ATM):c.3403-1G>T
NM_000051.4(ATM):c.3550G>A (p.Gly1184Arg) rs1555091402
NM_000051.4(ATM):c.3571_3576+1del rs2135670424
NM_000051.4(ATM):c.3576+1G>A rs876660621
NM_000051.4(ATM):c.3576+1G>T rs876660621
NM_000051.4(ATM):c.3576G>C (p.Lys1192Asn)
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3746+1G>T rs2082309297
NM_000051.4(ATM):c.3746+2T>A
NM_000051.4(ATM):c.3746+452_4363del
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3747-3_3751del rs1555093256
NM_000051.4(ATM):c.4109+1G>A rs879254034
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4109+2dup
NM_000051.4(ATM):c.4236+1G>A
NM_000051.4(ATM):c.4236+1G>C
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.4236+1_4236+2del rs2135753954
NM_000051.4(ATM):c.4236+1del rs2135753984
NM_000051.4(ATM):c.4236+2T>A rs1229926683
NM_000051.4(ATM):c.4237-1G>A
NM_000051.4(ATM):c.4237-2A>G rs1591662492
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4426_4436+14del
NM_000051.4(ATM):c.4604_4611+9del
NM_000051.4(ATM):c.4611+1G>A rs1565461840
NM_000051.4(ATM):c.4611+1G>T
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4611_4611+9del rs780969040
NM_000051.4(ATM):c.4612-1G>A rs1555100351
NM_000051.4(ATM):c.4910-1G>T rs1060501706
NM_000051.4(ATM):c.4910-2A>C rs1555103156
NM_000051.4(ATM):c.4910-2A>G rs1555103156
NM_000051.4(ATM):c.4910-2A>T rs1555103156
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+1G>C rs876658500
NM_000051.4(ATM):c.496+2T>G rs2079249834
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.497-1G>C rs778624615
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2A>G
NM_000051.4(ATM):c.5005+1G>A rs1057517427
NM_000051.4(ATM):c.5005+2T>C
NM_000051.4(ATM):c.5006-1G>A rs1591701799
NM_000051.4(ATM):c.5006-2A>G rs2135887733
NM_000051.4(ATM):c.5129_5763-1060del
NM_000051.4(ATM):c.5177+1del rs2083338520
NM_000051.4(ATM):c.5177+2T>A
NM_000051.4(ATM):c.5177+2T>C
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-9_5202del rs2135911351
NM_000051.4(ATM):c.5319+1G>A rs876660175
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5319+1del rs2135916021
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5319+2T>G rs1555105842
NM_000051.4(ATM):c.5320-1G>C rs2135926774
NM_000051.4(ATM):c.5320-2A>C rs1400417135
NM_000051.4(ATM):c.5320-2A>T
NM_000051.4(ATM):c.5496+1G>A rs879254180
NM_000051.4(ATM):c.5496+2T>A
NM_000051.4(ATM):c.5496+2T>C
NM_000051.4(ATM):c.5496+2T>G rs1591713093
NM_000051.4(ATM):c.5675-1G>C rs2135975662
NM_000051.4(ATM):c.5675-24_5699del
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5918+1G>A rs1591746871
NM_000051.4(ATM):c.5918+1G>T rs1591746871
NM_000051.4(ATM):c.5918+2T>A
NM_000051.4(ATM):c.5919-2A>C rs746623393
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
NM_000051.4(ATM):c.6007-1G>A rs1365726807
NM_000051.4(ATM):c.6007-2A>G rs2136117225
NM_000051.4(ATM):c.6095+2T>A
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6096-1G>C rs1591778339
NM_000051.4(ATM):c.6096-1G>T
NM_000051.4(ATM):c.6096-2A>C
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val) rs876659558
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu) rs866290641
NM_000051.4(ATM):c.6199-2del rs1555114545
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-1G>C rs1057517302
NM_000051.4(ATM):c.6348-2A>G rs864622367
NM_000051.4(ATM):c.6453-1G>A rs1555117071
NM_000051.4(ATM):c.6453-1G>C rs1555117071
NM_000051.4(ATM):c.6453-1_6457del rs2136238332
NM_000051.4(ATM):c.6453-2A>G rs539978799
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6572+1G>T rs587779856
NM_000051.4(ATM):c.6572+2T>A
NM_000051.4(ATM):c.6573-12C>A rs1057521666
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.662+1G>A rs1060501690
NM_000051.4(ATM):c.662+2T>C
NM_000051.4(ATM):c.663-2A>G rs886041931
NM_000051.4(ATM):c.663-2A>T
NM_000051.4(ATM):c.663-2del
NM_000051.4(ATM):c.6807+1_6807+7del
NM_000051.4(ATM):c.6807+2T>C rs2136319469
NM_000051.4(ATM):c.6807+2T>G
NM_000051.4(ATM):c.6808-1G>A
NM_000051.4(ATM):c.6808-1G>T
NM_000051.4(ATM):c.6808-2A>G
NM_000051.4(ATM):c.6975+1G>A rs1565521129
NM_000051.4(ATM):c.6975+1G>T rs1565521129
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.7081_7089+2del
NM_000051.4(ATM):c.7089+1G>A rs777741666
NM_000051.4(ATM):c.7089+1G>C rs777741666
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.72+2del rs1555053972
NM_000051.4(ATM):c.72_72+17del
NM_000051.4(ATM):c.7307+1G>A rs2086003529
NM_000051.4(ATM):c.7307+1G>T rs2086003529
NM_000051.4(ATM):c.7308-15A>G
NM_000051.4(ATM):c.7308-1G>C rs1555122941
NM_000051.4(ATM):c.7308-2A>C rs1555122938
NM_000051.4(ATM):c.7308-2_7308-1delinsTT rs2136451316
NM_000051.4(ATM):c.7515+1G>A rs1591161831
NM_000051.4(ATM):c.7515+1G>T rs1591161831
NM_000051.4(ATM):c.7516-1G>C
NM_000051.4(ATM):c.7516-2A>G
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7629+1del
NM_000051.4(ATM):c.7788+1G>A rs1565534524
NM_000051.4(ATM):c.7788+1G>C rs1565534524
NM_000051.4(ATM):c.7788+1G>T rs1565534524
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-1G>A rs1591177953
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
NM_000051.4(ATM):c.7927+1G>A rs1555125532
NM_000051.4(ATM):c.7927+1G>C rs1555125532
NM_000051.4(ATM):c.7927+2T>C
NM_000051.4(ATM):c.7927+2T>G rs2086432758
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.7928-2A>T rs864622610
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7997C>T (p.Thr2666Ile) rs730881384
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8010+2T>A
NM_000051.4(ATM):c.8010+2T>C rs1591184927
NM_000051.4(ATM):c.8010+2T>G
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu) rs1555127125
NM_000051.4(ATM):c.8105T>A (p.Ile2702Lys)
NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr) rs876659735
NM_000051.4(ATM):c.8122G>C (p.Asp2708His) rs587782719
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro) rs762154857
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000051.4(ATM):c.8268+1G>C rs876658957
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8268+2T>C rs1565544020
NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp) rs1565557835
NM_000051.4(ATM):c.8294G>C (p.Gly2765Ala)
NM_000051.4(ATM):c.8294G>T (p.Gly2765Val) rs1565557835
NM_000051.4(ATM):c.8418+1G>A rs766533795
NM_000051.4(ATM):c.8418+1_8418+3del rs2136953867
NM_000051.4(ATM):c.8418+2T>G
NM_000051.4(ATM):c.8418+5G>A rs1305740166
NM_000051.4(ATM):c.8419-2A>C rs1555137917
NM_000051.4(ATM):c.8419-2A>G rs1555137917
NM_000051.4(ATM):c.8485C>T (p.Pro2829Ser) rs2137030040
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro) rs529296539
NM_000051.4(ATM):c.8564G>T (p.Ser2855Ile) rs2088303841
NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8578_8584+17del
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8585-364A>G
NM_000051.4(ATM):c.8668_8671+9del rs2088564736
NM_000051.4(ATM):c.8671+1G>A
NM_000051.4(ATM):c.8671+1G>T rs1555139694
NM_000051.4(ATM):c.8672-1G>A rs876660088
NM_000051.4(ATM):c.8672-1G>C rs876660088
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)
NM_000051.4(ATM):c.8786_8786+3del rs1060501569
NM_000051.4(ATM):c.8787-1G>A
NM_000051.4(ATM):c.8787-1G>C rs1591313869
NM_000051.4(ATM):c.8787-1dup
NM_000051.4(ATM):c.8787-2A>G rs2089688512
NM_000051.4(ATM):c.8850+1G>T
NM_000051.4(ATM):c.8850+2T>G rs1555143623
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8851-2A>G rs886039647
NM_000051.4(ATM):c.8851-4_8852del rs2091196613
NM_000051.4(ATM):c.8988-1G>T rs730881386
NM_000051.4(ATM):c.901+1_901+26del rs1380265721
NM_000051.4(ATM):c.901+3A>T rs786203070
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.9022C>G (p.Arg3008Gly) rs587782292
NM_000051.4(ATM):c.9023G>C (p.Arg3008Pro) rs587781894
NM_000051.4(ATM):c.9132_9135dup (p.Arg3047fs) rs2137926139
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg) rs2091262473
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) rs2091262473
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser) rs2091262802
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu) rs199638075
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter) rs1943770060
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
NM_000784.4(CYP27A1):c.440_446+2del rs2105978950
NM_000784.4(CYP27A1):c.447-1G>A rs2105979879
NM_000784.4(CYP27A1):c.646+1G>A
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys) rs1943736101
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169
NM_001077418.3(TMEM231):c.140-30A>C rs2080806593
NM_001077418.3(TMEM231):c.439-1G>C
NM_001077418.3(TMEM231):c.439-33_538del
NM_001329943.3(KIAA0586):c.-29A>C rs752709426
NM_001329943.3(KIAA0586):c.1129+1G>A rs2140707466
NM_001329943.3(KIAA0586):c.1130-2A>G
NM_001329943.3(KIAA0586):c.1253+1G>A
NM_001329943.3(KIAA0586):c.1656+1G>A
NM_001329943.3(KIAA0586):c.1884+1G>T
NM_001329943.3(KIAA0586):c.200-2A>G
NM_001329943.3(KIAA0586):c.2059+1G>C
NM_001329943.3(KIAA0586):c.2254+1G>T
NM_001329943.3(KIAA0586):c.2634+1G>T
NM_001329943.3(KIAA0586):c.271-1G>A
NM_001329943.3(KIAA0586):c.2825+1G>A rs2141025675
NM_001329943.3(KIAA0586):c.2945-1G>C
NM_001329943.3(KIAA0586):c.3142_3144+5del rs771240219
NM_001329943.3(KIAA0586):c.3144+1G>A
NM_001329943.3(KIAA0586):c.3144+2T>C
NM_001329943.3(KIAA0586):c.341-2A>G
NM_001329943.3(KIAA0586):c.3859-3_3865del
NM_001329943.3(KIAA0586):c.3991-1G>A
NM_001329943.3(KIAA0586):c.411-1487A>T
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
NM_001329943.3(KIAA0586):c.807+1G>T
NM_001382391.1(CSPP1):c.-10-1G>T
NM_001382391.1(CSPP1):c.-54_-51del
NM_001382391.1(CSPP1):c.100-2A>C
NM_001382391.1(CSPP1):c.1022+1G>C
NM_001382391.1(CSPP1):c.1022+1G>T rs2129547115
NM_001382391.1(CSPP1):c.1188-2A>G
NM_001382391.1(CSPP1):c.1828-1G>C
NM_001382391.1(CSPP1):c.2129-2A>G rs2129559034
NM_001382391.1(CSPP1):c.3110-1G>A rs1064795687
NM_001382391.1(CSPP1):c.3221-1G>A
NM_001382391.1(CSPP1):c.3330+1G>C rs1045070965
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3331-2A>G rs1836992042
NM_001382391.1(CSPP1):c.483+2T>A
NM_015046.7(SETX):c.6208+2dup
NM_015046.7(SETX):c.6842+1G>T rs1038776365
NM_015046.7(SETX):c.6843-3_6843-1del rs1186690391
NM_015046.7(SETX):c.7100+2T>C
NM_016373.4(WWOX):c.107+2T>G
NM_016373.4(WWOX):c.605+1_605+2delinsAA rs2151934194
NM_016373.4(WWOX):c.605+2T>C
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.66_107+82delinsC
NM_016373.4(WWOX):c.791+1G>C
NM_016373.4(WWOX):c.791+1G>T rs1164465811
NM_016464.5(TMEM138):c.300+1G>T
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.98-2A>G
NM_022464.5(SIL1):c.353+1G>T
NM_022464.5(SIL1):c.643_645+21del
NM_022464.5(SIL1):c.645+2T>C
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.10608+1G>C rs1590998146
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
NM_182961.4(SYNE1):c.12079-2A>T rs2154019221
NM_182961.4(SYNE1):c.12351+2T>C rs2154000325
NM_182961.4(SYNE1):c.15837_15917+69del rs2153937126
NM_182961.4(SYNE1):c.16237-2A>G rs2153903647
NM_182961.4(SYNE1):c.16896+1G>T
NM_182961.4(SYNE1):c.18208-1G>A rs2153725036
NM_182961.4(SYNE1):c.19260+1G>C
NM_182961.4(SYNE1):c.19260+1G>T
NM_182961.4(SYNE1):c.19260+2T>C rs1588855714
NM_182961.4(SYNE1):c.22044+1G>A rs1372915935
NM_182961.4(SYNE1):c.22590-1G>A rs2153409815
NM_182961.4(SYNE1):c.22824+2T>A
NM_182961.4(SYNE1):c.23146-1G>A
NM_182961.4(SYNE1):c.23301+1G>A
NM_182961.4(SYNE1):c.23628-1G>A
NM_182961.4(SYNE1):c.23790+1G>A rs2153025020
NM_182961.4(SYNE1):c.2394+1G>A
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_182961.4(SYNE1):c.2568+1G>A rs2154261629
NM_182961.4(SYNE1):c.67+2T>A rs762743107
NM_182961.4(SYNE1):c.888+2T>C
NM_182961.4(SYNE1):c.9009+1G>A

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