ClinVar Miner

List of variants studied for congenital entropion by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00006
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) rs139751598 0.00004
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426 0.00004
NM_006907.4(PYCR1):c.138+1G>A rs755867227 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_001042545.2(LTBP4):c.1426+1G>T
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_006907.4(PYCR1):c.148del (p.Gly49_Val50insTer)
NM_006907.4(PYCR1):c.151A>T (p.Lys51Ter)
NM_006907.4(PYCR1):c.575del (p.Gly192fs)
NM_006907.4(PYCR1):c.722C>A (p.Ala241Asp) rs770505872
NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs)
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) rs1980007276

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