ClinVar Miner

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

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Total variants: 73
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HGVS dbSNP
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000041.4(APOE):c.461G>T (p.Arg154Leu) rs200703101
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.3(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000138.4(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000267.3(NF1):c.7909C>T (p.His2637Tyr) rs1555536868
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000525.3(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757
NM_000540.2(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743
NM_000540.2(RYR1):c.7856T>C (p.Leu2619Pro) rs1263237391
NM_000693.4(ALDH1A3):c.1436G>A (p.Gly479Asp) rs1567174297
NM_000834.4(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_001018005.2(TPM1):c.412G>A (p.Glu138Lys) rs879253758
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001079872.2(CUL4B):c.1741+4_1741+7del rs1569389364
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797
NM_001083962.2(TCF4):c.1136dup (p.Leu379fs) rs1057519592
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_001127660.1(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_001164342.2(ZBTB20):c.1955A>T (p.His652Leu) rs1560092224
NM_001281463.1(SMC1A):c.3307A>G (p.Met1103Val) rs1057519499
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862
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_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_003036.4(SKI):c.539C>A (p.Thr180Lys) rs863223722
NM_003150.4(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_003165.4(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443
NM_003361.3(UMOD):c.587A>G (p.Asp196Gly) rs1060499657
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile) rs775650144
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) rs1060499649
NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val) rs1590572104
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg) rs748876063
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr) rs1485749468
NM_006946.3(SPTBN2):c.470T>C (p.Ile157Thr) rs875989881
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) rs1060499656
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014915.2(ANKRD26):c.-126T>C rs1589393792
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu) rs201362977
NM_020473.3(PIGA):c.481G>A (p.Glu161Lys) rs1060499666
NM_020975.6(RET):c.1753T>C (p.Cys585Arg) rs1588872865
NM_021140.3(KDM6A):c.3598C>T (p.Leu1200Phe) rs1060499665
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile) rs1057519593
NM_032578.4(MYPN):c.2704-1G>A rs865921466
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser) rs1556403112
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu) rs761575210
NM_199436.1(SPAST):c.1015C>T (p.Leu339Phe) rs1060499670
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro) rs1060499662
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419

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