ClinVar Miner

List of variants reported as likely pathogenic by Pathology and Clinical Laboratory Medicine,King Fahad Medical City

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Total variants: 43
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HGVS dbSNP
NC_000003.12:g.48584060del
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg)
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs)
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.2T>G (p.Met1Arg)
NM_000317.3(PTS):c.342C>G (p.Ile114Met)
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu) rs1407920390
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744
NM_000396.4(CTSK):c.244-29A>G
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) rs587779351
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys) rs1553567411
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871
NM_005529.7(HSPG2):c.11208-7G>A rs1336552092
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062
NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)
NM_015713.4(RRM2B):c.1A>G (p.Met1Val) rs772913758
NM_015713.5(RRM2B):c.204+5G>A
NM_017613.4(DONSON):c.786-22A>G rs1135401960
NM_022356.4(P3H1):c.1839-2A>C
NM_024809.5(TCTN2):c.1286dup (p.Asn429fs)
NM_024809.5(TCTN2):c.862_863del (p.Val288fs)
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805
NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) rs864321622
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_058172.6(ANTXR2):c.720del (p.Ser240fs)
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) rs727503822

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