ClinVar Miner

List of variants reported as pathogenic by Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1
GRCh37/hg19 10q26.2-26.3(chr10:129454892-135447971)x1
GRCh37/hg19 11p11.2(chr11:43769206-44958891)x1
GRCh37/hg19 11p14.2-13(chr11:27154853-33302474)x1
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3
GRCh37/hg19 11q24.2-25(chr11:125366454-134938470)x1
GRCh37/hg19 11q24.2-25(chr11:126362042-134938470)x3
GRCh37/hg19 11q25(chr11:131740926-134934063)x1
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1
GRCh37/hg19 12q21.31(chr12:80883788-81175910)x1
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1
GRCh37/hg19 13q31.1-31.3(chr13:85005334-92461147)x1
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1
GRCh37/hg19 13q34(chr13:111152478-114527838)x1
GRCh37/hg19 13q34(chr13:111217422-115103529)x1
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28506450)x3
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28535266)x3
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x1
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x3
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4
GRCh37/hg19 15q13.2-13.3(chr15:30394266-32862087)x3
GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x1
GRCh37/hg19 15q15.3(chr15:43892807-43940669)x1
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x3
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x1
GRCh37/hg19 16p13.11(chr16:14968859-16303388)x1
GRCh37/hg19 16p13.11(chr16:14975292-16306563)x1
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1
GRCh37/hg19 17p12(chr17:14101029-15504740)x3
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3
GRCh37/hg19 17q12(chr17:34815551-36244358)x1
GRCh37/hg19 17q12(chr17:34815551-36307189)x1
GRCh37/hg19 17q21.31(chr17:43685925-44212727)x1
GRCh37/hg19 17q21.31(chr17:43705601-44165803)x1
GRCh37/hg19 17q21.31(chr17:43705601-44208333)x1
GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3
GRCh37/hg19 17q25.3(chr17:79828248-81057996)x1
GRCh37/hg19 18p11.32(chr18:12842-1606526)x1
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1
GRCh37/hg19 18q22.2-23(chr18:68552596-78015180)x1
GRCh37/hg19 18q23(chr18:73528968-78015180)x1
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3
GRCh37/hg19 19p13.3(chr19:1119019-1451274)x1
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3
GRCh37/hg19 1p36.32(chr1:3539082-5247082)x1
GRCh37/hg19 1p36.32-36.23(chr1:4965631-8106987)x1
GRCh37/hg19 1p36.33(chr1:1040026-1156131)x1
GRCh37/hg19 1p36.33(chr1:1485984-1954436)x1
GRCh37/hg19 1p36.33(chr1:2004098-2133862)x1
GRCh37/hg19 1p36.33(chr1:82154-1036959)x1
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1
GRCh37/hg19 1p36.33-36.32(chr1:2280661-2551900)x1
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3
GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x1
GRCh37/hg19 1q21.1-21.2(chr1:146089268-149376652)x1
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147826789)x3
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3
GRCh37/hg19 1q31.1(chr1:188620903-188928487)x1
GRCh37/hg19 1q31.1(chr1:189108008-190570878)x1
GRCh37/hg19 1q31.1-31.2(chr1:190622633-191184941)x1
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3
GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3
GRCh37/hg19 21q22.12(chr21:36394632-36517454)x1
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1
GRCh37/hg19 21q22.3(chr21:45821582-47383056)x1
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3
GRCh37/hg19 22q11.1-11.21(chr22:16114244-20737903)x3
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3
GRCh37/hg19 22q11.21(chr22:18675473-21465050)x3
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x3
GRCh37/hg19 22q11.21(chr22:18844632-21608479)x1
GRCh37/hg19 22q11.21(chr22:18861748-21463730)x1
GRCh37/hg19 22q11.21(chr22:18872508-21465050)x1
GRCh37/hg19 22q11.21(chr22:18875869-21470273)x1
GRCh37/hg19 22q11.21(chr22:18875956-21466715)x1
GRCh37/hg19 22q11.21(chr22:18878409-21465050)x1
GRCh37/hg19 22q11.21(chr22:18878409-21467387)x3
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1
GRCh37/hg19 22q11.21(chr22:18886915-21465050)x1
GRCh37/hg19 22q11.21(chr22:18886915-21467387)x1
GRCh37/hg19 22q11.21(chr22:18889490-20312668)x1
GRCh37/hg19 22q11.21(chr22:18889490-21466715)x1
GRCh37/hg19 22q11.21(chr22:18891398-21463730)x3
GRCh37/hg19 22q11.21(chr22:19016663-21463730)x1
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3
GRCh37/hg19 2q14.1-14.3(chr2:117070953-126303416)x1
GRCh37/hg19 2q23.1(chr2:148724265-148861205)x1
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3
GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1
GRCh37/hg19 2q31.2-32.1(chr2:180292467-185489430)x1
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1
GRCh37/hg19 2q33.1(chr2:200154449-200255711)x1
GRCh37/hg19 2q35-36.1(chr2:220608798-224217756)x1
GRCh37/hg19 2q36.3-37.1(chr2:228966709-231528909)x1
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1
GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3
GRCh37/hg19 3p26.3-26.1(chr3:61495-4952779)x3
GRCh37/hg19 3p26.3-26.2(chr3:61495-3663278)x1
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3
GRCh37/hg19 3q27.3-28(chr3:186018854-189514047)x1
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1
GRCh37/hg19 3q29(chr3:195677895-197346971)x3
GRCh37/hg19 3q29(chr3:195725402-197386693)x1
GRCh37/hg19 3q29(chr3:195738406-197346566)x3
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3
GRCh37/hg19 4q12-13.3(chr4:58332294-71587615)x1
GRCh37/hg19 4q24-25(chr4:105039193-110409978)x3
GRCh37/hg19 4q28.1-28.3(chr4:124282603-134014299)x1
GRCh37/hg19 4q32.3-34.1(chr4:166431563-174837887)x1
GRCh37/hg19 4q34.3-35.1(chr4:177982668-183929581)x1
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1
GRCh37/hg19 4q35.1-35.2(chr4:186953813-187201271)x1
GRCh37/hg19 4q35.2(chr4:190146504-190915650)x1
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3
GRCh37/hg19 5q14.3-15(chr5:87512314-95096562)x1
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1
GRCh37/hg19 6p21.1(chr6:44988031-45626855)x1
GRCh37/hg19 6p25.3(chr6:108666-1505511)x1
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3
GRCh37/hg19 6q27(chr6:165989942-171054786)x1
GRCh37/hg19 7p14.1(chr7:37213108-40255122)x3
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3
GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1
GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1
GRCh37/hg19 7q11.23(chr7:72650265-74138603)x1
GRCh37/hg19 7q11.23(chr7:72653306-74134911)x1
GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1
GRCh37/hg19 7q11.23(chr7:72743983-74145064)x3
GRCh37/hg19 7q11.23(chr7:73023062-73524207)x1
GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1
GRCh37/hg19 7q21.3(chr7:93700162-96950914)x1
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1
GRCh37/hg19 7q36.3(chr7:158649005-159126310)x3
GRCh37/hg19 8p23.1(chr8:8105359-11859851)x3
GRCh37/hg19 8p23.1(chr8:8111659-11898209)x3
GRCh37/hg19 8p23.3-23.1(chr8:10213-10197718)x1
GRCh37/hg19 8p23.3-23.1(chr8:10213-8948469)x1
GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)x1
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1
GRCh37/hg19 9p21.3(chr9:20834837-22101120)x1
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1
GRCh37/hg19 Xp11.3(chrX:43807135-43845720)x0
GRCh37/hg19 Xp11.4(chrX:41533814-41653441)x1
GRCh37/hg19 Xp21.1(chrX:31533207-31983162)x0
GRCh37/hg19 Xp21.1(chrX:31764087-31864634)x1
GRCh37/hg19 Xp21.1(chrX:32041580-32556252)x1
GRCh37/hg19 Xp22.13(chrX:18444908-18505130)x1
GRCh37/hg19 Xp22.31(chrX:6449601-8135053)x1
GRCh37/hg19 Xp22.31(chrX:6451799-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.33(chrX:2700157-3183507)x2
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3
GRCh37/hg19 Xp22.33-22.31(chrX:60262-7807206)x1
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1
GRCh37/hg19 Xq26.2(chrX:132815787-132973332)x0
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2
GRCh37/hg19 Xq28(chrX:154070167-154927199)x1
GRCh37/hg19 Yp11.2(chrY:4550107-4935714)x2
GRCh37/hg19 Yp11.31-11.2(chrY:2649693-4035330)x2
GRCh37/hg19 Yp11.31-q11.23(chrY:2655180-28727063)x0
GRCh37/hg19 Yp11.31-q12(chrY:2655180-58883690)x2
GRCh37/hg19 Yq11.1-12(chrY:13132024-28817458)x0
GRCh37/hg19 Yq11.23-12(chrY:28792268-58883690)x0
Single allele

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