List of variants in gene PIKFYVE reported as pathogenic for corneal disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)	rs992128517	0.00001
NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg)	rs121918336	0.00001
NM_015040.3(PIKFYVE):c.2008_2190del (p.Ile670_Gln730del)
NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter)	rs121918337
NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs)	rs869312464
NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs)	rs387907335
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)	rs2125682979

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