ClinVar Miner

List of variants studied for congenital ectropion by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
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Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu) rs587781312 0.00004
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu) rs746703615 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe) rs786202598 0.00002
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys) rs778019174 0.00002
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser) rs773441320 0.00001
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met) rs587778170 0.00001
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val) rs1003012321 0.00001
NM_004360.5(CDH1):c.2358C>T (p.Asp786=) rs760701558 0.00001
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys) rs587782162 0.00001
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala) rs587781766 0.00001
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile) rs587782189
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn) rs2152135021
NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe) rs1567512154
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser) rs35187787
NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp) rs1060501218
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly) rs878854684
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537

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