ClinVar Miner

List of variants in gene PXDN reported as likely benign for corneal disorder

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp) rs200127189 0.00160
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys) rs775995985 0.00133
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu) rs201592851 0.00096
NM_012293.3(PXDN):c.3559G>A (p.Asp1187Asn) rs201763004 0.00090
NM_012293.3(PXDN):c.3743+9G>A rs184138871 0.00075
NM_012293.3(PXDN):c.1422C>T (p.Ser474=) rs112778384 0.00051
NM_012293.3(PXDN):c.2097C>T (p.Asn699=) rs369631419 0.00036
NM_012293.3(PXDN):c.1443C>A (p.Val481=) rs370752629 0.00033
NM_012293.3(PXDN):c.730+16C>T rs373245706 0.00031
NM_012293.3(PXDN):c.3147G>A (p.Glu1049=) rs369851999 0.00018
NM_012293.3(PXDN):c.3303T>G (p.Ala1101=) rs368271183 0.00018
NM_012293.3(PXDN):c.1827C>T (p.Leu609=) rs202108023 0.00016
NM_012293.3(PXDN):c.165G>A (p.Glu55=) rs781119752 0.00015
NM_012293.3(PXDN):c.2787G>A (p.Leu929=) rs753095408 0.00015
NM_012293.3(PXDN):c.2999C>T (p.Thr1000Met) rs201077249 0.00015
NM_012293.3(PXDN):c.612G>A (p.Ala204=) rs748974745 0.00015
NM_012293.3(PXDN):c.1596C>T (p.Ser532=) rs375578544 0.00014
NM_012293.3(PXDN):c.2394G>A (p.Val798=) rs548975446 0.00005
NM_012293.3(PXDN):c.1329C>T (p.Val443=) rs550694319 0.00004
NM_012293.3(PXDN):c.2313C>T (p.Tyr771=) rs370841716 0.00004
NM_012293.3(PXDN):c.3660G>A (p.Glu1220=) rs368223046 0.00004
NM_012293.3(PXDN):c.1018+10G>A rs972175216 0.00003
NM_012293.3(PXDN):c.2592C>T (p.Pro864=) rs552146038 0.00002
NM_012293.3(PXDN):c.3642T>C (p.Phe1214=) rs544242132 0.00001
NM_012293.3(PXDN):c.3768G>C (p.Val1256=) rs746169929 0.00001
NM_012293.3(PXDN):c.639G>A (p.Ser213=) rs778985833 0.00001
NM_012293.3(PXDN):c.750C>T (p.Ser250=) rs762530703 0.00001
NM_012293.3(PXDN):c.1074C>T (p.Ser358=)
NM_012293.3(PXDN):c.1206C>T (p.Val402=)
NM_012293.3(PXDN):c.1284C>T (p.Ile428=)
NM_012293.3(PXDN):c.1383G>A (p.Pro461=)
NM_012293.3(PXDN):c.1386C>T (p.Pro462=)
NM_012293.3(PXDN):c.1408+15G>A
NM_012293.3(PXDN):c.1408+8_1408+9dup
NM_012293.3(PXDN):c.1409-16G>A
NM_012293.3(PXDN):c.1409-16G>T
NM_012293.3(PXDN):c.1992G>A (p.Pro664=)
NM_012293.3(PXDN):c.2172C>G (p.Thr724=)
NM_012293.3(PXDN):c.2172C>T (p.Thr724=) rs368483848
NM_012293.3(PXDN):c.243A>G (p.Ala81=) rs1572164777
NM_012293.3(PXDN):c.2640C>T (p.Arg880=)
NM_012293.3(PXDN):c.2741A>G (p.Asn914Ser)
NM_012293.3(PXDN):c.2913C>T (p.Phe971=)
NM_012293.3(PXDN):c.3000G>A (p.Thr1000=)
NM_012293.3(PXDN):c.3153C>T (p.His1051=)
NM_012293.3(PXDN):c.3201C>T (p.Thr1067=)
NM_012293.3(PXDN):c.3441A>G (p.Ala1147=) rs773884838
NM_012293.3(PXDN):c.3482G>A (p.Arg1161Gln)
NM_012293.3(PXDN):c.3483G>T (p.Arg1161=) rs375049627
NM_012293.3(PXDN):c.3570T>C (p.Asn1190=) rs2125410277
NM_012293.3(PXDN):c.3876G>A (p.Ala1292=) rs377271958
NM_012293.3(PXDN):c.3953-5T>C
NM_012293.3(PXDN):c.417-7C>T
NM_012293.3(PXDN):c.4206+15G>A
NM_012293.3(PXDN):c.4320+10G>A
NM_012293.3(PXDN):c.4425G>A (p.Ala1475=)
NM_012293.3(PXDN):c.621G>T (p.Leu207=)
NM_012293.3(PXDN):c.657G>A (p.Ala219=) rs764442724
NM_012293.3(PXDN):c.717A>G (p.Glu239=) rs2125441165
NM_012293.3(PXDN):c.730+15dup
NM_012293.3(PXDN):c.730+18C>T
NM_012293.3(PXDN):c.831C>A (p.Ile277=) rs1553362974
NM_012293.3(PXDN):c.849-8C>T
NM_012293.3(PXDN):c.873T>C (p.Asp291=)

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