ClinVar Miner

List of variants studied for congenital entropion by Baylor Genetics

Included ClinVar conditions (45):
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ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys) rs199875504 0.00071
NM_000501.4(ELN):c.1884C>T (p.Ala628=) rs372315353 0.00031
NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile) rs141200859 0.00026
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys) rs778595954 0.00014
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) rs368147360 0.00008
NM_001042545.2(LTBP4):c.3446G>C (p.Ser1149Thr) rs375879929 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val) rs369484751 0.00006
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_000501.4(ELN):c.92G>A (p.Gly31Glu) rs782625771 0.00004
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) rs770442555 0.00003
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His) rs756168752 0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186 0.00001
NM_152281.3(GORAB):c.785G>A (p.Arg262Gln) rs145193965 0.00001
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) rs1377636628
NM_000052.7(ATP7A):c.1537G>A (p.Glu513Lys) rs1569549699
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.2774_2775del (p.Thr925fs)
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
NM_001042545.2(LTBP4):c.1307-2A>G rs970983655
NM_001042545.2(LTBP4):c.1611G>C (p.Glu537Asp)
NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln) rs1553565140
NM_002860.4(ALDH18A1):c.1376G>C (p.Arg459Pro) rs771386671
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) rs1595286986
NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu) rs1453600644
NM_006907.4(PYCR1):c.-378G>C
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) rs2041142934
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) rs376350227
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230

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