ClinVar Miner

List of variants reported as pathogenic by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_198514.4(NHLRC2):c.442G>T (p.Asp148Tyr) rs201701259 0.00045
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00003
NM_033419.5(PGAP3):c.861G>T (p.Trp287Cys) rs869312813 0.00003
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_000168.6(GLI3):c.1028+1G>A rs1375768446 0.00001
NM_000188.3(HK1):c.281G>A (p.Arg94Gln) rs1176654400 0.00001
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) rs147475752 0.00001
NM_003937.3(KYNU):c.326G>C (p.Trp109Ser) rs780720490 0.00001
NM_003937.3(KYNU):c.989G>A (p.Arg330Gln) rs142934146 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter) rs1422519039 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_198514.4(NHLRC2):c.148C>T (p.Gln50Ter) rs1425674152 0.00001
NC_000002.12:g.142877008_142961693del
NC_000008.10:g.100246250_100460500del
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3890G>A rs587776434
NC_012920.1:m.8993T>G rs199476133
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000059.4(BRCA2):c.1238del (p.Leu413fs) rs80359271
NM_000069.3(CACNA1S):c.1252_1253del (p.Asn418fs)
NM_000074.3(CD40LG):c.161_162insG (p.Asp55fs)
NM_000088.4(COL1A1):c.1614+1G>A rs72648357
NM_000088.4(COL1A1):c.4006-1G>A
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000168.6(GLI3):c.1033_1048del (p.Ala345fs) rs2128732140
NM_000168.6(GLI3):c.1133dup (p.Pro379fs) rs2128732074
NM_000168.6(GLI3):c.1793dup (p.Asn598fs) rs2128712235
NM_000168.6(GLI3):c.1880_1881del (p.His627fs) rs2128710014
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) rs781422192
NM_000168.6(GLI3):c.2059del (p.Glu687fs) rs2128709905
NM_000168.6(GLI3):c.2103+2T>A rs2128709879
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.2594C>G (p.Ser865Ter) rs2128706319
NM_000168.6(GLI3):c.3667_3670delinsATCAA (p.Tyr1223fs) rs2128705420
NM_000168.6(GLI3):c.366C>A (p.Tyr122Ter) rs1366557334
NM_000168.6(GLI3):c.4172del (p.Gly1391fs) rs2128705042
NM_000168.6(GLI3):c.650C>G (p.Ser217Ter) rs2128742651
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000494.4(COL17A1):c.3686dup (p.Val1231fs)
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001032221.6(STXBP1):c.579-1G>C
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) rs587783590
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001347721.2(DYRK1A):c.367G>T (p.Glu123Ter)
NM_001356.5(DDX3X):c.1395_1399del (p.Tyr466fs)
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter) rs1554792556
NM_001370100.5(ZMYND11):c.1317_1320del (p.Thr440fs) rs1388355040
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001376.5(DYNC1H1):c.3624G>T (p.Trp1208Cys)
NM_001379291.1(BRD4):c.2239C>T (p.Gln747Ter)
NM_001385079.1(PDE10A):c.1696T>C (p.Phe566Leu) rs875989841
NM_001451.3(FOXF1):c.57_60del (p.Gly20fs) rs1969545531
NM_001606.5(ABCA2):c.6630_6630+1del
NM_001754.5(RUNX1):c.590_597del (p.Val197fs)
NM_001792.5(CDH2):c.1344+1G>A rs2143975765
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer) rs2078662535
NM_001904.4(CTNNB1):c.999del (p.Thr332_Tyr333insTer)
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) rs2104803395
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002890.3(RASA1):c.2239C>T (p.Gln747Ter)
NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro)
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003172.4(SURF1):c.38_44del (p.Ala13fs)
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.3539C>A (p.Ser1180Ter) rs750754763
NM_003638.3(ITGA8):c.2804dup (p.Val936fs)
NM_003668.4(MAPKAPK5):c.1077dup (p.Leu360fs) rs2136153237
NM_004035.7(ACOX1):c.320del (p.Phe107fs) rs2065875711
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
NM_004247.4(EFTUD2):c.423del (p.Lys142fs)
NM_004750.5(CRLF1):c.713del (p.Pro238fs)
NM_004826.4(ECEL1):c.1672del (p.Val558fs)
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs) rs2033035924
NM_005032.7(PLS3):c.1512-1G>T rs2147590595
NM_005032.7(PLS3):c.672_673del (p.His225fs)
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006045.3(ATP9A):c.868C>T (p.Arg290Ter)
NM_006073.4(TRDN):c.508G>T (p.Gly170Ter)
NM_006765.4(TUSC3):c.420dup (p.Gln141fs) rs773426468
NM_007059.4(KPTN):c.599+1G>A
NM_012193.4(FZD4):c.1273del (p.Thr425fs)
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs) rs1555528354
NM_013275.6(ANKRD11):c.7470+5G>C
NM_014727.3(KMT2B):c.5741_5748dup (p.Ser1917fs)
NM_015355.4(SUZ12):c.156C>G (p.Tyr52Ter)
NM_015559.3(SETBP1):c.44dup (p.Glu16fs) rs1231303606
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_016648.4(LARP7):c.834dup (p.Arg279fs) rs763929099
NM_016648.4(LARP7):c.931_950del (p.Lys311fs)
NM_017662.5(TRPM6):c.1437C>A (p.Tyr479Ter)
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_018238.4(AGK):c.628C>T (p.Arg210Ter)
NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs)
NM_018714.3(COG1):c.1070+5G>A rs1568296260
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020708.5(SLC12A5):c.2017C>T (p.Gln673Ter)
NM_021224.6(ZNF462):c.3111dup (p.Ala1038fs)
NM_022455.5(NSD1):c.4636_4639del (p.Cys1546fs) rs1554197794
NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val)
NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs) rs1649037695
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs)
NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs)
NM_031263.4(HNRNPK):c.402+1G>A
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_033419.5(PGAP3):c.402dup (p.Met135fs) rs869312812
NM_033419.5(PGAP3):c.439dup (p.Leu147fs) rs869312815
NM_033419.5(PGAP3):c.511T>C (p.Cys171Arg) rs869312816
NM_033419.5(PGAP3):c.842T>C (p.Leu281Pro) rs869312817
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly) rs869312814
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_052867.4(NALCN):c.3056dup (p.Leu1019fs) rs772394714
NM_078629.4(MSL3):c.1282-249_1382-154del
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080911.3(UNG):c.294del (p.Ser97_Trp98insTer) rs2135882474
NM_133368.3(RSPRY1):c.358G>T (p.Glu120Ter)
NM_152564.5(VPS13B):c.3446-23T>G rs2133510569
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs) rs886037717
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
Single allele
m.10197G>A rs267606891
m.13513G>A rs267606897

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