ClinVar Miner

List of variants reported as likely pathogenic by Genomic Medicine Lab, University of California San Francisco

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412 0.00003
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00003
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000478.6(ALPL):c.532T>C (p.Tyr178His) rs1215600806 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000901.5(NR3C2):c.2767C>T (p.Gln923Ter) rs1553986374
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln) rs1555611692
NM_001069.3(TUBB2A):c.1072C>A (p.Pro358Thr) rs2113785077
NM_001080453.3(INTS1):c.3036del (p.Met1013fs) rs1357982637
NM_001080453.3(INTS1):c.3430-2A>C rs770569947
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662
NM_001110556.2(FLNA):c.7059del (p.Phe2353fs) rs2148102202
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)
NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs) rs2145051267
NM_001127392.3(MYRF):c.789dup (p.Ser264fs) rs769274302
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val) rs751455326
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.2610G>A (p.Met870Ile) rs1247870598
NM_001142864.4(PIEZO1):c.5716_5738del (p.Pro1906fs) rs2142762329
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro) rs2105822776
NM_001374353.1(GLI2):c.1889del (p.Lys630fs) rs1573730110
NM_001378120.1(MBD5):c.936dup (p.Pro313fs) rs2105627349
NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro) rs1597291380
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp) rs1939463507
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) rs986393872
NM_002585.4(PBX1):c.817T>C (p.Cys273Arg) rs2102336635
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter) rs1602743059
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter) rs2147060430
NM_004985.5(KRAS):c.220A>C (p.Thr74Pro) rs770020203
NM_005188.4(CBL):c.1169A>T (p.Asp390Val) rs763058208
NM_005251.3(FOXC2):c.1027G>T (p.Glu343Ter) rs1223233551
NM_005559.4(LAMA1):c.8668C>T (p.Gln2890Ter) rs2143969631
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006565.4(CTCF):c.1119T>A (p.His373Gln) rs2142847350
NM_006565.4(CTCF):c.782-1G>C rs2142827936
NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro) rs1400108198
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_014009.4(FOXP3):c.648-2A>G rs2147947553
NM_015355.4(SUZ12):c.1451del (p.Gly484fs) rs2142215876
NM_017780.4(CHD7):c.2613G>T (p.Glu871Asp) rs2150739129
NM_018131.5(CEP55):c.190C>T (p.Arg64Ter) rs146596670
NM_018486.3(HDAC8):c.976_996del (p.Thr326_Pro332del)
NM_018489.3(ASH1L):c.6129dup (p.Asp2044Ter) rs2148443341
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp) rs1555933616
NM_019042.5(PUS7):c.298_299del (p.Ser100fs) rs2133254783
NM_019042.5(PUS7):c.640_641del (p.Leu214fs) rs769379928
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile) rs745702205
NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu) rs1574560025
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs) rs1722830922
NM_032271.3(TRAF7):c.1112G>A (p.Arg371Gln)
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu) rs1565369746
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg) rs1600577387
NM_207122.2(EXT2):c.1173G>A (p.Gln391=) rs1457613214

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