ClinVar Miner

List of variants reported as pathogenic by Pars Genome Lab

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A rs145809731 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_000033.4(ABCD1):c.1126del (p.Glu376fs)
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs) rs2151932243
NM_000180.4(GUCY2D):c.3026T>A (p.Met1009Lys) rs1452774826
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter) rs916332384
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) rs1048935147
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
NM_000448.3(RAG1):c.1460T>G (p.Met487Arg) rs1850812562
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_001009944.3(PKD1):c.1202-2A>G rs2092662592
NM_001042492.3(NF1):c.1A>G (p.Met1Val) rs1060500252
NM_001042492.3(NF1):c.2322dup (p.Glu775Ter)
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.5576T>G (p.Leu1859Ter) rs2151541835
NM_001199198.3(TBC1D23):c.1018del (p.Val340fs)
NM_001298.3(CNGA3):c.77del (p.Asn26fs) rs2104175554
NM_001365536.1(SCN9A):c.966-2_972del
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del) rs199474801
NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr) rs756977475
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter) rs2135785787
NM_005198.5(CHKB):c.737-1G>C rs2146653379
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro) rs1001642335
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) rs150465110
NM_015426.5(POC1A):c.80_81insA (p.Phe27fs)
NM_020919.4(ALS2):c.3703-2A>C
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_198129.4(LAMA3):c.5596C>T (p.Gln1866Ter) rs763060857

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