ClinVar Miner

List of variants studied for isolated cryptophthalmia by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter) rs765324128 0.00001
NM_207361.6(FREM2):c.5309G>A (p.Trp1770Ter) rs1566133616

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