ClinVar Miner

List of variants in gene PTCD3 reported as uncertain significance

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_017952.6(PTCD3):c.2044G>A (p.Asp682Asn) rs144366369 0.00059
NM_017952.6(PTCD3):c.413C>T (p.Pro138Leu) rs113346311 0.00045
NM_017952.6(PTCD3):c.1183G>A (p.Asp395Asn) rs140559951 0.00021
NM_017952.6(PTCD3):c.1184A>T (p.Asp395Val) rs150045544 0.00021
NM_017952.6(PTCD3):c.236A>G (p.Asn79Ser) rs372392785 0.00015
NM_017952.6(PTCD3):c.1129C>T (p.Arg377Cys) rs573871763 0.00011
NM_017952.6(PTCD3):c.805-3C>T rs199732602 0.00010
NM_017952.6(PTCD3):c.1514G>A (p.Arg505Gln) rs199858981 0.00007
NM_017952.6(PTCD3):c.1570C>T (p.Arg524Cys) rs200794298 0.00006
NM_017952.6(PTCD3):c.17C>T (p.Ala6Val) rs201067869 0.00005
NM_017952.6(PTCD3):c.232G>C (p.Val78Leu) rs1246171065 0.00005
NM_017952.6(PTCD3):c.743T>A (p.Phe248Tyr) rs369460544 0.00004
NM_017952.6(PTCD3):c.1073G>A (p.Arg358His) rs756013192 0.00003
NM_017952.6(PTCD3):c.1324G>A (p.Gly442Arg) rs200147987 0.00002
NM_017952.6(PTCD3):c.1511A>G (p.Asn504Ser) rs762026012 0.00002
NM_017952.6(PTCD3):c.1782A>G (p.Lys594=) rs779780892 0.00002
NM_017952.6(PTCD3):c.1946T>C (p.Val649Ala) rs1674600451 0.00002
NM_017952.6(PTCD3):c.955C>G (p.Leu319Val) rs552042768 0.00002
NM_017952.6(PTCD3):c.1010C>T (p.Thr337Ile) rs1674412524 0.00001
NM_017952.6(PTCD3):c.1072C>T (p.Arg358Cys) rs577965556 0.00001
NM_017952.6(PTCD3):c.1205G>A (p.Gly402Glu) rs769353113 0.00001
NM_017952.6(PTCD3):c.1387G>A (p.Asp463Asn) rs778632544 0.00001
NM_017952.6(PTCD3):c.1412T>C (p.Ile471Thr) rs151100815 0.00001
NM_017952.6(PTCD3):c.1551A>C (p.Lys517Asn) rs1674541838 0.00001
NM_017952.6(PTCD3):c.1661A>C (p.Asp554Ala) rs1052160799 0.00001
NM_017952.6(PTCD3):c.1980G>C (p.Lys660Asn) rs966711291 0.00001
NM_017952.6(PTCD3):c.34C>T (p.Leu12Phe) rs761051792 0.00001
NM_017952.6(PTCD3):c.590A>G (p.Tyr197Cys) rs551460460 0.00001
NM_017952.6(PTCD3):c.719C>G (p.Ala240Gly) rs760231243 0.00001
NM_017952.6(PTCD3):c.769C>G (p.His257Asp) rs1398737327 0.00001
NM_017952.6(PTCD3):c.7G>A (p.Val3Ile) rs376098144 0.00001
NM_017952.6(PTCD3):c.1012A>T (p.Ile338Phe)
NM_017952.6(PTCD3):c.1031G>A (p.Arg344Lys) rs889787203
NM_017952.6(PTCD3):c.1135T>C (p.Phe379Leu)
NM_017952.6(PTCD3):c.1219C>T (p.Pro407Ser)
NM_017952.6(PTCD3):c.1232A>G (p.Asp411Gly) rs2466571060
NM_017952.6(PTCD3):c.1251G>C (p.Gln417His) rs146203968
NM_017952.6(PTCD3):c.1276C>T (p.Leu426Phe)
NM_017952.6(PTCD3):c.1331A>C (p.Asn444Thr) rs2466574457
NM_017952.6(PTCD3):c.1366T>C (p.Phe456Leu)
NM_017952.6(PTCD3):c.1442T>C (p.Leu481Pro)
NM_017952.6(PTCD3):c.1462C>A (p.Pro488Thr)
NM_017952.6(PTCD3):c.1466A>C (p.His489Pro)
NM_017952.6(PTCD3):c.1571G>T (p.Arg524Leu) rs147045229
NM_017952.6(PTCD3):c.1579C>G (p.Leu527Val)
NM_017952.6(PTCD3):c.1603A>G (p.Met535Val) rs767164991
NM_017952.6(PTCD3):c.1631T>G (p.Leu544Arg)
NM_017952.6(PTCD3):c.1702G>C (p.Ala568Pro) rs1674556133
NM_017952.6(PTCD3):c.194G>C (p.Trp65Ser) rs777373754
NM_017952.6(PTCD3):c.1952G>A (p.Ser651Asn)
NM_017952.6(PTCD3):c.2014G>A (p.Asp672Asn) rs1405135522
NM_017952.6(PTCD3):c.2056A>C (p.Ser686Arg) rs974823235
NM_017952.6(PTCD3):c.218C>A (p.Ala73Glu)
NM_017952.6(PTCD3):c.25T>C (p.Trp9Arg)
NM_017952.6(PTCD3):c.289C>T (p.Pro97Ser)
NM_017952.6(PTCD3):c.325G>T (p.Ala109Ser)
NM_017952.6(PTCD3):c.32G>T (p.Gly11Val)
NM_017952.6(PTCD3):c.38G>C (p.Arg13Pro) rs764621355
NM_017952.6(PTCD3):c.421A>T (p.Met141Leu)
NM_017952.6(PTCD3):c.436G>A (p.Glu146Lys) rs2466545422
NM_017952.6(PTCD3):c.446T>G (p.Ile149Ser) rs1558795657
NM_017952.6(PTCD3):c.493A>G (p.Lys165Glu)
NM_017952.6(PTCD3):c.500A>G (p.Lys167Arg)
NM_017952.6(PTCD3):c.547G>A (p.Val183Met)
NM_017952.6(PTCD3):c.553C>G (p.Leu185Val)
NM_017952.6(PTCD3):c.560C>T (p.Thr187Ile)
NM_017952.6(PTCD3):c.577G>T (p.Asp193Tyr)
NM_017952.6(PTCD3):c.616G>T (p.Asp206Tyr)
NM_017952.6(PTCD3):c.638G>C (p.Gly213Ala)
NM_017952.6(PTCD3):c.695A>G (p.His232Arg)
NM_017952.6(PTCD3):c.769C>T (p.His257Tyr) rs1398737327
NM_017952.6(PTCD3):c.890T>G (p.Leu297Trp)
NM_017952.6(PTCD3):c.940A>T (p.Ser314Cys) rs2466560693

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