ClinVar Miner

List of variants studied for corneal disorder by Reproductive Health Research and Development, BGI Genomics

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) rs273585623 0.00026

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