List of variants in gene PXDN 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_012293.3(PXDN):c.1021C>T (p.Arg341Ter)	rs369535598	0.00001
NM_012293.3(PXDN):c.1A>G (p.Met1Val)	rs1387582423	0.00001
NM_012293.3(PXDN):c.2638C>T (p.Arg880Cys)	rs587777572	0.00001
NM_012293.3(PXDN):c.1109del (p.Pro370fs)	rs748853041
NM_012293.3(PXDN):c.1927C>T (p.Arg643Ter)
NM_012293.3(PXDN):c.2098G>T (p.Gly700Ter)	rs1683063437
NM_012293.3(PXDN):c.2276C>T (p.Ser759Leu)	rs200731840
NM_012293.3(PXDN):c.2350del (p.His784fs)	rs2125412042
NM_012293.3(PXDN):c.2353C>T (p.Arg785Ter)	rs1316655042
NM_012293.3(PXDN):c.2375_2397del (p.Leu792fs)	rs587777573
NM_012293.3(PXDN):c.2568del (p.Cys857fs)	rs558163499
NM_012293.3(PXDN):c.2569del (p.Cys857fs)	rs1408683917
NM_012293.3(PXDN):c.2824C>T (p.Gln942Ter)	rs2125411312
NM_012293.3(PXDN):c.3609-1G>C
NM_012293.3(PXDN):c.4216_4225dup (p.Arg1409delinsProTer)	rs1572110097
NM_012293.3(PXDN):c.693_697dup (p.Val233fs)	rs1572153816

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