ClinVar Miner

List of variants reported as not provided for congenital entropion by GenomeConnect, ClinGen

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_000501.4(ELN):c.92G>A (p.Gly31Glu) rs782625771 0.00004
NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr) rs370362292 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser) rs373445028 0.00004
NM_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln) rs1032506558 0.00001
NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu) rs760578075 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)
NM_003573.2(LTBP4):c.230+2T>G rs2146012706

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