ClinVar Miner

List of variants reported by Department of Molecular and Human Genetics, Baylor College of Medicine

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ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala) rs192888493 0.00019
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_000888.5(ITGB6):c.898G>A (p.Glu300Lys) rs779692470 0.00003
NM_005548.3(KARS1):c.433T>C (p.Tyr145His) rs397514745 0.00003
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn) rs397514746 0.00001
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter) rs370031870 0.00001
NM_144670.6(A2ML1):c.3001C>T (p.Arg1001Trp) rs201725377 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
GRCh37/hg19 10p12.1(chr10:27504464-27504571)
GRCh37/hg19 12p12.2-12.1(chr12:21017576-21404166)
GRCh37/hg19 12q24.31(chr12:123738221-123738503)
GRCh37/hg19 13q12.11(chr13:20803674-21030220)
GRCh37/hg19 14q13.2(chr14:35546356-35546423)
GRCh37/hg19 14q31.3(chr14:88399828-88422607)
GRCh37/hg19 16p11.2(chr16:28497668-28497972)
GRCh37/hg19 16q23.1(chr16:78458767-78458953)
GRCh37/hg19 17p13.2(chr17:3394299-3632836)
GRCh37/hg19 17q22(chr17:57119174-57128690)
GRCh37/hg19 17q25.1(chr17:73735514-73739660)
GRCh37/hg19 19q13.31(chr19:44015589-44015719)
GRCh37/hg19 19q13.33(chr19:48328087-48339179)
GRCh37/hg19 1p36.12(chr1:21616227-21617357)
GRCh37/hg19 1p36.13(chr1:16372179-16388605)
GRCh37/hg19 1q23.1(chr1:158655335-158667812)
GRCh37/hg19 1q23.3(chr1:162748370-162748520)
GRCh37/hg19 1q42.13(chr1:227149087-227149264)
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
GRCh37/hg19 22q11.21(chr22:20029135-20062954)
GRCh37/hg19 22q11.21(chr22:20036384-20045784)
GRCh37/hg19 22q12.3(chr22:34152899-34236578)
GRCh37/hg19 22q13.1(chr22:38565225-38565434)
GRCh37/hg19 2p21(chr2:44494834-44571747)
GRCh37/hg19 4q24(chr4:107092252-107092428)
GRCh37/hg19 4q31.3(chr4:151441408-151719830)
GRCh37/hg19 4q31.3(chr4:151622552-151657380)
GRCh37/hg19 5p13.2(chr5:35867357-35867581)
GRCh37/hg19 5p15.2(chr5:13844711-13845454)
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)
GRCh37/hg19 5q14.1(chr5:78111022-78111871)
GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)
GRCh37/hg19 6q16.1(chr6:99347158-99374801)
GRCh37/hg19 6q25.1(chr6:151757398-151757691)
GRCh37/hg19 6q25.3(chr6:158567861-158571603)
GRCh37/hg19 7q35(chr7:146997280-146997587)
GRCh37/hg19 8p23.1(chr8:6261036-6312712)
GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521)
GRCh37/hg19 8q22.2(chr8:100067471-100156392)
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
GRCh37/hg19 8q22.2(chr8:100168626-100298366)
GRCh37/hg19 8q22.2(chr8:100232749-100493790)
GRCh37/hg19 8q22.2(chr8:100274176-100477297)
GRCh37/hg19 8q22.2(chr8:100479441-100545102)
GRCh37/hg19 8q22.2(chr8:100587642-100712137)
GRCh37/hg19 8q24.3(chr8:140852548-140953922)
GRCh37/hg19 9q22.32(chr9:97401423-97401593)
GRCh37/hg19 9q34.12(chr9:133553916-133554028)
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del
NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del
NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del
NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del
NC_000006.11:g.(117971549_117971550)_(118218719_118218720)del
NC_000006.11:g.(118410062_118436482)_(118604516_118635123)del
NC_000017.11:g.8017296_8022594del
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) rs1180658535
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_001163435.3(TBCK):c.1860+1G>A rs1303851095
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro) rs869312749
NM_006012.4(CLPP):c.270+4A>G rs398123035
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_007348.3:c.355_356dupG
NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr) rs1307997067
NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter) rs587777497
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138701.4(MPLKIP):c.339+1G>A rs869312900
NM_144670.6(A2ML1):c.1067C>G (p.Pro356Arg) rs863224953
NM_144670.6(A2ML1):c.2428G>A (p.Ala810Thr) rs863224954
NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs) rs863224951
NM_144670.6(A2ML1):c.2914G>T (p.Glu972Ter) rs760545562
NM_144670.6(A2ML1):c.4292C>T (p.Ala1431Val) rs863224955
NM_144670.6(A2ML1):c.763C>T (p.Gln255Ter) rs863224952
NM_181534.4(KRT25):c.950T>C (p.Leu317Pro) rs766783183

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