ClinVar Miner

List of variants reported as not provided for ectopia lentis et pupillae

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)	rs781691587	0.00007
NM_019032.6(ADAMTSL4):c.2237G>A (p.Arg746His)	rs754966903	0.00002
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	rs199473693

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