ClinVar Miner

List of variants studied for anterior segment dysgenesis 7 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_012293.3(PXDN):c.3921A>G (p.Val1307=) rs6730800 0.86660
NM_012293.3(PXDN):c.1836T>C (p.Asn612=) rs17841813 0.71557
NM_012293.3(PXDN):c.2892C>T (p.Asn964=) rs3811613 0.25189
NM_012293.3(PXDN):c.3953-14T>C rs7578605 0.09206
NM_012293.3(PXDN):c.1568-19C>G rs7588627 0.07897
NM_012293.3(PXDN):c.1946+6G>A rs73178792 0.05765
NM_012293.3(PXDN):c.2661C>T (p.Ser887=) rs1863134 0.04731
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=) rs6752525 0.03782
NM_012293.3(PXDN):c.1182T>C (p.Ser394=) rs76057922 0.01411
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln) rs6723697 0.01353
NM_012293.3(PXDN):c.111G>C (p.Pro37=) rs140134102 0.01330
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=) rs61976956 0.01306
NM_012293.3(PXDN):c.4321-16C>T rs113997519 0.01052
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=) rs61731247 0.00844
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu) rs61747868 0.00788
NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile) rs61747875 0.00688
NM_012293.3(PXDN):c.3198C>T (p.Ala1066=) rs115076385 0.00686
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu) rs73910815 0.00635
NM_012293.3(PXDN):c.1242G>A (p.Ala414=) rs111448491 0.00609
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met) rs79322931 0.00537
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu) rs147066927 0.00460
NM_012293.3(PXDN):c.1380G>A (p.Pro460=) rs191647762 0.00406
NM_012293.3(PXDN):c.1018+9C>T rs182152963 0.00400
NM_012293.3(PXDN):c.1113G>A (p.Pro371=) rs200996147 0.00399
NM_012293.3(PXDN):c.1680+19G>A rs201018276 0.00382
NM_012293.3(PXDN):c.1392C>T (p.Ile464=) rs61749582 0.00278
NM_012293.3(PXDN):c.1176G>T (p.Thr392=) rs140056124 0.00223
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=) rs372463004 0.00204
NM_012293.3(PXDN):c.4207-6C>T rs117207020 0.00190
NM_012293.3(PXDN):c.488+8G>C rs142878073 0.00184
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697 0.00162
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.648G>A (p.Ala216=) rs183196973 0.00115
NM_012293.3(PXDN):c.4341C>T (p.Phe1447=) rs147851300 0.00114
NM_012293.3(PXDN):c.2283C>T (p.Thr761=) rs201654539 0.00098
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu) rs201592851 0.00096
NM_012293.3(PXDN):c.531A>G (p.Thr177=) rs577963506 0.00093
NM_012293.3(PXDN):c.2385G>A (p.Pro795=) rs373265335 0.00091
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.969C>T (p.Ala323=) rs61746899 0.00074
NM_012293.3(PXDN):c.1656C>T (p.Pro552=) rs200276592 0.00066
NM_012293.3(PXDN):c.1347C>T (p.Thr449=) rs184142208 0.00063
NM_012293.3(PXDN):c.1422C>T (p.Ser474=) rs112778384 0.00051
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=) rs144382074 0.00051
NM_012293.3(PXDN):c.273G>A (p.Leu91=) rs200915485 0.00048
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=) rs75454260 0.00046
NM_012293.3(PXDN):c.921A>G (p.Thr307=) rs117914830 0.00043
NM_012293.3(PXDN):c.2097C>T (p.Asn699=) rs369631419 0.00036
NM_012293.3(PXDN):c.270A>G (p.Thr90=) rs147536472 0.00036
NM_012293.3(PXDN):c.1443C>A (p.Val481=) rs370752629 0.00033
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala) rs201039175 0.00031
NM_012293.3(PXDN):c.730+16C>T rs373245706 0.00031
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met) rs183629867 0.00024
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys) rs151054868 0.00021
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.1789C>T (p.Arg597Trp) rs373022614 0.00014
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr) rs186563338 0.00013
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.2394G>A (p.Val798=) rs548975446 0.00005
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys) rs995348999 0.00005
NM_012293.3(PXDN):c.1329C>T (p.Val443=) rs550694319 0.00004
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.2313C>T (p.Tyr771=) rs370841716 0.00004
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu) rs748447804 0.00004
NM_012293.3(PXDN):c.3660G>A (p.Glu1220=) rs368223046 0.00004
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met) rs577701184 0.00004
NM_012293.3(PXDN):c.1018+10G>A rs972175216 0.00003
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.2592C>T (p.Pro864=) rs552146038 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
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
NC_000002.11:g.(?_1748008)_(1748227_?)dup
NM_012293.3(PXDN):c.1074C>T (p.Ser358=)
NM_012293.3(PXDN):c.1206C>T (p.Val402=)
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
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.1517A>G (p.Asn506Ser) rs2125425458
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
NM_012293.3(PXDN):c.1927C>T (p.Arg643Ter)
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile) rs773445177
NM_012293.3(PXDN):c.1992G>A (p.Pro664=)
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
NM_012293.3(PXDN):c.2172C>G (p.Thr724=)
NM_012293.3(PXDN):c.2172C>T (p.Thr724=) rs368483848
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.2350del (p.His784fs) rs2125412042
NM_012293.3(PXDN):c.2353C>T (p.Arg785Ter) rs1316655042
NM_012293.3(PXDN):c.243A>G (p.Ala81=) rs1572164777
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
NM_012293.3(PXDN):c.2569del (p.Cys857fs) rs1408683917
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg) rs769171499
NM_012293.3(PXDN):c.2640C>G (p.Arg880=) rs79442404
NM_012293.3(PXDN):c.2640C>T (p.Arg880=)
NM_012293.3(PXDN):c.272+18A>G
NM_012293.3(PXDN):c.2730A>C (p.Ile910=) rs1863135
NM_012293.3(PXDN):c.2741A>G (p.Asn914Ser)
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
NM_012293.3(PXDN):c.2821G>A (p.Val941Met) rs189824177
NM_012293.3(PXDN):c.2824C>T (p.Gln942Ter) rs2125411312
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
NM_012293.3(PXDN):c.2913C>T (p.Phe971=)
NM_012293.3(PXDN):c.3000G>A (p.Thr1000=)
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=) rs147695468
NM_012293.3(PXDN):c.3153C>T (p.His1051=)
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
NM_012293.3(PXDN):c.3201C>T (p.Thr1067=)
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met)
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu) rs2125500995
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu)
NM_012293.3(PXDN):c.3441A>G (p.Ala1147=) rs773884838
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
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.3803C>T (p.Thr1268Met)
NM_012293.3(PXDN):c.3876G>A (p.Ala1292=) rs377271958
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=) rs111450110
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys) rs367602205
NM_012293.3(PXDN):c.3953-5T>C
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
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.4357C>A (p.Pro1453Thr)
NM_012293.3(PXDN):c.4425G>A (p.Ala1475=)
NM_012293.3(PXDN):c.621G>T (p.Leu207=)
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
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.742A>T (p.Ile248Phe)
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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