ClinVar Miner

List of variants reported as pathogenic for basal laminar drusen 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_000186.4(CFH):c.1204= (p.His402=) rs1061170 0.36375
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) rs121913062 0.00004
NM_000186.4(CFH):c.1222C>T (p.Gln408Ter) rs121913061
NM_000186.4(CFH):c.350+6T>G rs387906550

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