ClinVar Miner

List of variants reported as likely pathogenic by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.4482-1G>T rs774492992 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_000046.5(ARSB):c.905G>A (p.Gly302Glu)
NM_000089.4(COL1A2):c.1901G>T (p.Gly634Val)
NM_000089.4(COL1A2):c.2297G>A (p.Gly766Asp)
NM_000132.4(F8):c.1120del (p.Met374fs)
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)
NM_000132.4(F8):c.683A>C (p.His228Pro)
NM_000132.4(F8):c.745A>T (p.Lys249Ter)
NM_000132.4(F8):c.836T>G (p.Met279Arg)
NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del)
NM_000138.5(FBN1):c.3726T>G (p.Cys1242Trp)
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.6670dup (p.Thr2224fs)
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys)
NM_000380.4(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000393.5(COL5A2):c.2662-2A>G
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) rs2090628516
NM_001042492.3(NF1):c.1890del (p.Gly631fs)
NM_001042492.3(NF1):c.1A>C (p.Met1Leu) rs1060500252
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser) rs1282493551
NM_001042492.3(NF1):c.3113+5G>C rs1555614549
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn) rs1131691123
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)
NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs) rs2151060309
NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)
NM_001399.5(EDA):c.706G>A (p.Gly236Ser)
NM_001844.5(COL2A1):c.3437G>C (p.Gly1146Ala)
NM_002470.4(MYH3):c.2096T>A (p.Val699Asp)
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.604T>C (p.Tyr202His)
NM_004484.4(GPC3):c.190del (p.Val64fs)
NM_005862.3(STAG1):c.17T>G (p.Leu6Ter)
NM_006031.6(PCNT):c.546_547del (p.Gly183fs)
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro) rs1601718760
NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)
NM_014112.5(TRPS1):c.2719del (p.Val907fs)
NM_017780.4(CHD7):c.2544del (p.Asp849fs)
NM_017780.4(CHD7):c.5894+1G>T
NM_021615.5(CHST6):c.211G>C (p.Glu71Gln) rs999246452
NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr) rs515726172
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
NM_133433.4(NIPBL):c.3932G>A (p.Cys1311Tyr) rs2149676839
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.4:c.1480_2479del
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)

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