ClinVar Miner

List of variants reported as likely pathogenic by Provincial Medical Genetics Program of British Columbia, University of British Columbia

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_001348716.2(KDM6B):c.3736C>T (p.Arg1246Cys) rs1294523865 0.00001
NM_000089.4(COL1A2):c.2935G>C (p.Gly979Arg) rs2115952631
NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT rs2141220506
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro) rs2147082680
NM_000310.4(PPT1):c.551A>T (p.Glu184Val) rs2124474566
NM_001003800.2(BICD2):c.1543G>A (p.Glu515Lys) rs1587668852
NM_001039590.2:c.3466_3879del
NM_001040142.2(SCN2A):c.1283A>T (p.Tyr428Phe) rs796053182
NM_001080517.3(SETD5):c.875T>C (p.Leu292Ser) rs2125187544
NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr) rs2147667154
NM_001127392.3(MYRF):c.1702del (p.Asp568fs) rs2135840297
NM_001190274.2(FBXO11):c.657C>G (p.Tyr219Ter) rs757821091
NM_001197104.2(KMT2A):c.10934dup (p.Ser3646fs) rs2134430935
NM_001273.5(CHD4):c.3529C>T (p.Arg1177Cys) rs2136209186
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs) rs2148494128
NM_001320.7(CSNK2B):c.291+1G>T rs2151187350
NM_001348716.2(KDM6B):c.4495C>T (p.Arg1499Ter) rs2151379880
NM_001349338.3(FOXP1):c.1201C>T (p.Gln401Ter) rs1234028937
NM_001352027.3(PHF21A):c.153+1G>T rs2134991780
NM_001370100.5(ZMYND11):c.859A>T (p.Lys287Ter) rs2131809743
NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs) rs2148190013
NM_001606.5(ABCA2):c.4108C>T (p.Gln1370Ter) rs2131443090
NM_001845.6(COL4A1):c.2869G>A (p.Gly957Arg) rs2139162955
NM_002529.4(NTRK1):c.656delinsTT (p.Gly219fs) rs2102894535
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs) rs1692335353
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004484.4(GPC3):c.505G>T (p.Glu169Ter) rs2071700502
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) rs727503868
NM_005321.3(H1-4):c.509_549del (p.Ala170fs) rs2113827331
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs) rs2144018381
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser) rs1131691895
NM_006772.3(SYNGAP1):c.1583delinsTG (p.Pro528fs) rs2151172438
NM_006852.6(TLK2):c.585C>A (p.Cys195Ter) rs2146204977
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter) rs2147383715
NM_013275.6(ANKRD11):c.2853_2856del (p.Lys952fs) rs2151757918
NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter) rs1168428802
NM_014874.4(MFN2):c.838C>T (p.Arg280Cys) rs879253957
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) rs2118977758
NM_017617.5(NOTCH1):c.3171+1_5935-1del
NM_018026.4(PACS1):c.755C>T (p.Ser252Phe)
NM_018684.4(ZC4H2):c.592C>G (p.Arg198Gly) rs137962226
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_021954.4(GJA3):c.98G>T (p.Arg33Leu) rs374701362
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg) rs2149912373
NM_030632.3(ASXL3):c.3001C>T (p.Gln1001Ter) rs2067642748
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_078480.3(PUF60):c.1550T>G (p.Val517Gly) rs2130202692
NM_133433.4(NIPBL):c.7658T>G (p.Leu2553Trp) rs2149752967
NM_138927.4(SON):c.1416del (p.Pro473fs) rs2145819270
NM_145239.3(PRRT2):c.364C>T (p.Gln122Ter) rs1555502665
NM_152393.4(KLHL40):c.1350C>A (p.Tyr450Ter) rs1486566170
NM_174916.3(UBR1):c.1912-6T>G rs1131691523
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter) rs1563240592
NM_207037.2(TCF12):c.268C>T (p.Arg90Ter) rs747222651

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