List of variants studied for Fundus dystrophy, pseudoinflammatory, recessive form

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000362.5(TIMP3):c.249T>C (p.His83=)	rs9862	0.59578
NM_003490.4(SYN3):c.711+64113G>A	rs148722870	0.00040
NM_000362.5(TIMP3):c.*213dup	rs886057435	0.00016
NM_000362.5(TIMP3):c.*1554del	rs886057442	0.00005
NM_000362.5(TIMP3):c.*1536del	rs886057441
NM_000362.5(TIMP3):c.1552_1553del	rs766674644
NM_000362.5(TIMP3):c.*1553del	rs766674644
NM_000362.5(TIMP3):c.1700_1703del	rs550747276
NM_000362.5(TIMP3):c.*1812del	rs397690270
NM_000362.5(TIMP3):c.*1812dup	rs397690270
NM_000362.5(TIMP3):c.2012_2013insAAA	rs886057447
NM_000362.5(TIMP3):c.2017_2019dup	rs55686145
NM_000362.5(TIMP3):c.*3343AG[1]	rs767627836
NM_000362.5(TIMP3):c.*3652del	rs886057454

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