List of variants in gene PXDN reported as uncertain significance for corneal disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 55

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HGVS	dbSNP	gnomAD frequency
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala)	rs201039175	0.00031
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met)	rs183629867	0.00024
NM_012293.3(PXDN):c.1789C>T (p.Arg597Trp)	rs373022614	0.00014
NM_012293.3(PXDN):c.3551C>T (p.Thr1184Met)	rs370226454	0.00013
NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro)	rs371739601	0.00013
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met)	rs772632642	0.00012
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu)	rs372395551	0.00006
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys)	rs995348999	0.00005
NM_012293.3(PXDN):c.1498T>C (p.Tyr500His)	rs368890003	0.00004
NM_012293.3(PXDN):c.1680+6C>T	rs930569592	0.00004
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu)	rs748447804	0.00004
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met)	rs577701184	0.00004
NM_012293.3(PXDN):c.1811C>T (p.Ser604Leu)	rs575642508	0.00003
NM_012293.3(PXDN):c.701C>T (p.Ala234Val)	rs376902965	0.00003
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile)	rs769037467	0.00002
NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr)	rs567182921	0.00002
NM_012293.3(PXDN):c.1650C>T (p.Gly550=)	rs753678349	0.00001
NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys)	rs755097189	0.00001
NM_012293.3(PXDN):c.1885G>A (p.Val629Met)	rs770134392	0.00001
NM_012293.3(PXDN):c.2180G>A (p.Arg727Gln)	rs748238090	0.00001
NM_012293.3(PXDN):c.2369A>T (p.His790Leu)	rs1682956712	0.00001
NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe)	rs757055936	0.00001
NC_000002.11:g.(?_1748008)_(1748227_?)dup
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser)	rs2125425458
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile)	rs773445177
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
NM_012293.3(PXDN):c.2201A>T (p.Asp734Val)
NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys)	rs2125412247
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
NM_012293.3(PXDN):c.2569T>C (p.Cys857Arg)	rs1682948313
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg)	rs769171499
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
NM_012293.3(PXDN):c.2920G>A (p.Gly974Arg)
NM_012293.3(PXDN):c.2999C>G (p.Thr1000Arg)	rs201077249
NM_012293.3(PXDN):c.3042CTA[1] (p.Tyr1016del)
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met)
NM_012293.3(PXDN):c.3247C>T (p.Arg1083Trp)
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu)	rs2125500995
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu)
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
NM_012293.3(PXDN):c.3659A>G (p.Glu1220Gly)
NM_012293.3(PXDN):c.3742A>G (p.Arg1248Gly)	rs2125407700
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met)
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys)	rs367602205
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe)

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