ClinVar Miner

List of variants reported by Kariminejad - Najmabadi Pathology & Genetics Center

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ClinVar version:
Total variants: 71
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HGVS dbSNP
NC_000021.9:g.46132536_46132539delinsACCA
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298
NM_000051.3(ATM):c.3244_3245insG (p.His1082fs)
NM_000070.3(CAPN3):c.1292dup (p.Ser432fs) rs1555421856
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
NM_000089.3(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter) rs121917709
NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000283.3(PDE6B):c.1670A>G (p.His557Arg)
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
NM_000414.4(HSD17B4):c.623-1G>T rs1554064083
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000540.2(RYR1):c.11178_11193+7del
NM_001001344.2(ATP2B3):c.2314A>G (p.Thr772Ala)
NM_001080449.3(DNA2):c.940-1G>A
NM_001127178.3(PIGG):c.1A>G (p.Met1Val)
NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) rs121908235
NM_001130105.1(CERT1):c.223_233del (p.Arg75fs)
NM_001145026.2(PTPRQ):c.6327+1G>A
NM_001145536.2(C17orf107):c.*1457A>T
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)
NM_001159699.2(FHL1):c.211C>T (p.His71Tyr)
NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter)
NM_001168272.1(ITPR1):c.3867C>G (p.His1289Gln) rs556943368
NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter)
NM_001244710.1(GFPT1):c.686-2A>G rs1011196447
NM_001267550.2(TTN):c.63535A>G (p.Ser21179Gly)
NM_001271769.2(AP3B1):c.1880A>G (p.Tyr627Cys)
NM_001346813.1(ARID1B):c.5653C>T (p.Arg1885Cys)
NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr) rs1553153691
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001999.4(FBN2):c.3521G>T (p.Cys1174Phe)
NM_002241.5(KCNJ10):c.755C>G (p.Pro252Arg)
NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter)
NM_002768.5(CHMP1A):c.252+5G>T
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs)
NM_004006.2(DMD):c.2804-1del rs1557374667
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_005676.5(RBM10):c.355_358del (p.Glu119fs)
NM_005677.4(COLQ):c.279C>A (p.Cys93Ter)
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter)
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val)
NM_012414.4(RAB3GAP2):c.961-2A>G
NM_014285.7(EXOSC2):c.673-1G>T rs1465736368
NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) rs750959420
NM_015559.3(SETBP1):c.2665C>T (p.Arg889Ter)
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016107.5(ZFR):c.2072A>C (p.His691Pro)
NM_017534.6(MYH2):c.3600G>T (p.Lys1200Asn)
NM_020771.4(HACE1):c.302C>A (p.Pro101His)
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_022068.3(PIEZO2):c.2960C>T (p.Thr987Ile)
NM_022912.3(REEP1):c.601G>A (p.Ala201Thr)
NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr)
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa)
NM_152906.7(TANGO2):c.605+1G>A rs372949028
NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)
NM_173660.5(DOK7):c.1457del (p.Pro486fs)
NM_176787.5(PIGN):c.377T>C (p.Leu126Pro)
NM_213653.3(HJV):c.950G>A (p.Cys317Tyr)

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