ClinVar Miner

List of variants reported as likely pathogenic by Center of Genomic medicine, Geneva, University Hospital of Geneva

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ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215 0.00001
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743 0.00001
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile) rs775650144 0.00001
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) rs1060499649 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu) rs1391158579 0.00001
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000041.4(APOE):c.461G>T (p.Arg154Leu) rs200703101
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro) rs1263237391
NM_000693.4(ALDH1A3):c.1436G>A (p.Gly479Asp) rs1567174297
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_001018005.2(TPM1):c.412G>A (p.Glu138Lys) rs879253758
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr) rs1555536868
NM_001079872.2(CUL4B):c.1741+4_1741+7del rs1569389364
NM_001083962.2(TCF4):c.1136dup (p.Leu379fs) rs1057519592
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe) rs1060499665
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001348800.3(ZBTB20):c.1955A>T (p.His652Leu) rs1560092224
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
NM_001374385.1(ATP8B1):c.2609C>G (p.Pro870Arg)
NM_001614.5(ACTG1):c.440G>A (p.Arg147His) rs2143779222
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys) rs2143775790
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg) rs1461754052
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del) rs1057519591
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_003036.4(SKI):c.539C>A (p.Thr180Lys) rs863223722
NM_003361.4(UMOD):c.587A>G (p.Asp196Gly) rs1060499657
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_005402.4(RALA):c.68G>C (p.Gly23Ala)
NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val) rs1590572104
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg) rs748876063
NM_005629.4(SLC6A8):c.626C>G (p.Pro209Arg)
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) rs2140188685
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp)
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val) rs1057519499
NM_006502.3(POLH):c.571A>C (p.Thr191Pro)
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr) rs1485749468
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr) rs875989881
NM_014208.3(DSPP):c.1805del (p.Ser602fs)
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) rs1060499656
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014874.4(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe) rs1060499670
NM_014946.4(SPAST):c.1441_1446del (p.Leu481_Val482del)
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017780.4(CHD7):c.3523-19A>T
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu) rs201362977
NM_020975.6(RET):c.1753T>C (p.Cys585Arg) rs1588872865
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_025074.7(FRAS1):c.3975+1G>C
NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile) rs1057519593
NM_032578.4(MYPN):c.2704-1G>A rs865921466
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser) rs1556403112
NM_130837.3(OPA1):c.1118C>G (p.Ser373Cys) rs2109015193
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr) rs1952754017
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu) rs761575210
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro) rs1060499662

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