ClinVar Miner

List of variants reported as likely pathogenic by Kasturba Medical College, Manipal University

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Total variants: 37
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HGVS dbSNP
NM_000095.3(COMP):c.1201G>C (p.Asp401His)
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)
NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del)
NM_000095.3(COMP):c.1445A>T (p.Asp482Val)
NM_000095.3(COMP):c.874T>C (p.Cys292Arg)
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val)
NM_001037333.3(CYFIP2):c.2089T>C (p.Cys697Arg)
NM_001080522.2(CC2D2A):c.4088G>T (p.Gly1363Val) rs762683334
NM_001080522.2(CC2D2A):c.4555T>G (p.Trp1519Gly) rs1577406415
NM_001122659.3(EDNRB):c.777del (p.Val260fs)
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly)
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001376.5(DYNC1H1):c.9751G>A (p.Glu3251Lys)
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004481.5(GALNT2):c.623G>A (p.Arg208Gln)
NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe) rs1553546045
NM_005412.6(SHMT2):c.1133A>G (p.Asp378Gly)
NM_005957.5(MTHFR):c.202C>G rs763539350
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu)
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_015559.3(SETBP1):c.2879T>G (p.Leu960Arg)
NM_022369.4(STRA6):c.1285G>C (p.Ala429Pro)
NM_025114.4(CEP290):c.2456A>T (p.Gln819Leu) rs1209421607
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049
NM_030578.4(B9D2):c.15C>A (p.His5Gln) rs1388769907
NM_032193.4(RNASEH2C):c.205C>T rs78635798
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_153033.5(KCTD7):c.280C>T rs387907260
NM_153704.6(TMEM67):c.2357G>C (p.Gly786Ala) rs386834193
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe) rs1559320299
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) rs773779627

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