ClinVar Miner

List of variants in gene DCLRE1C studied for Inborn genetic diseases

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101 0.00016
NM_001033855.3(DCLRE1C):c.746G>A (p.Arg249His) rs374838779 0.00011
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907 0.00010
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn) rs773799685 0.00009
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu) rs772391197 0.00006
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys) rs746552030 0.00004
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378 0.00004
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln) rs760897653 0.00004
NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp) rs770015010 0.00003
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233 0.00003
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739 0.00003
NM_001033855.3(DCLRE1C):c.331T>A (p.Leu111Ile) rs377443609 0.00003
NM_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln) rs377694988 0.00002
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936 0.00002
NM_001033855.3(DCLRE1C):c.1810G>C (p.Asp604His) rs1170054478 0.00002
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly) rs1252776122 0.00002
NM_001033855.3(DCLRE1C):c.1223C>T (p.Pro408Leu) rs772982087 0.00001
NM_001033855.3(DCLRE1C):c.1494A>C (p.Glu498Asp) rs779242343 0.00001
NM_001033855.3(DCLRE1C):c.1553C>T (p.Ser518Leu) rs1013045171 0.00001
NM_001033855.3(DCLRE1C):c.1583A>G (p.Glu528Gly) rs1159787737 0.00001
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) rs780103215 0.00001
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu) rs575678692 0.00001
NM_001033855.3(DCLRE1C):c.1867A>G (p.Thr623Ala) rs1328876117 0.00001
NM_001033855.3(DCLRE1C):c.1885C>T (p.His629Tyr) rs768407082 0.00001
NM_001033855.3(DCLRE1C):c.2041G>C (p.Ala681Pro) rs151259511 0.00001
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp) rs1033877372 0.00001
NM_001033855.3(DCLRE1C):c.340G>A (p.Gly114Ser) rs1443020418 0.00001
NM_001033855.3(DCLRE1C):c.436A>G (p.Arg146Gly) rs756583993 0.00001
NM_001033855.3(DCLRE1C):c.901A>C (p.Thr301Pro) rs534330466 0.00001
NM_001033855.3(DCLRE1C):c.1193C>G (p.Pro398Arg)
NM_001033855.3(DCLRE1C):c.1207C>A (p.His403Asn)
NM_001033855.3(DCLRE1C):c.1208A>G (p.His403Arg) rs1588896251
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys) rs769948633
NM_001033855.3(DCLRE1C):c.137C>T (p.Thr46Ile) rs1168701627
NM_001033855.3(DCLRE1C):c.1526C>T (p.Ser509Phe) rs1834787216
NM_001033855.3(DCLRE1C):c.1576G>C (p.Asp526His)
NM_001033855.3(DCLRE1C):c.1685C>T (p.Ser562Phe) rs2491624864
NM_001033855.3(DCLRE1C):c.1711A>C (p.Thr571Pro)
NM_001033855.3(DCLRE1C):c.1846C>A (p.Pro616Thr)
NM_001033855.3(DCLRE1C):c.1846C>T (p.Pro616Ser) rs115066096
NM_001033855.3(DCLRE1C):c.1903A>C (p.Ser635Arg) rs1051813612
NM_001033855.3(DCLRE1C):c.1925A>G (p.Asn642Ser)
NM_001033855.3(DCLRE1C):c.1978G>C (p.Glu660Gln) rs1834688531
NM_001033855.3(DCLRE1C):c.2048A>G (p.Lys683Arg)
NM_001033855.3(DCLRE1C):c.2065C>G (p.Leu689Val) rs2491614775
NM_001033855.3(DCLRE1C):c.322G>C (p.Val108Leu) rs1470214437
NM_001033855.3(DCLRE1C):c.418G>A (p.Ala140Thr)
NM_001033855.3(DCLRE1C):c.515G>C (p.Arg172Thr)
NM_001033855.3(DCLRE1C):c.535C>T (p.Arg179Trp)
NM_001033855.3(DCLRE1C):c.599A>G (p.His200Arg)
NM_001033855.3(DCLRE1C):c.727C>T (p.His243Tyr)
NM_001033855.3(DCLRE1C):c.752C>G (p.Thr251Ser) rs1167136909
NM_001033855.3(DCLRE1C):c.76G>T (p.Ala26Ser)
NM_001033855.3(DCLRE1C):c.818G>A (p.Gly273Glu)
NM_001033855.3(DCLRE1C):c.90C>A (p.Phe30Leu)
NM_001033855.3(DCLRE1C):c.940G>T (p.Ala314Ser) rs771666297
NM_001033855.3(DCLRE1C):c.984C>A (p.Phe328Leu) rs1485367298

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