ClinVar Miner

List of variants studied for basal laminar drusen by OMIM

Included ClinVar conditions (2):

Basal laminar drusen
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		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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