ClinVar Miner

List of variants reported as benign for anterior segment dysgenesis 7

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 60
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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.4206+79G>A rs6742040 0.84241
NM_012293.3(PXDN):c.1567+67C>T rs12475392 0.75111
NM_012293.3(PXDN):c.1836T>C (p.Asn612=) rs17841813 0.71557
NM_012293.3(PXDN):c.200+35C>T rs62116430 0.35690
NM_012293.3(PXDN):c.2892C>T (p.Asn964=) rs3811613 0.25189
NM_012293.3(PXDN):c.4074-40A>G rs66753271 0.09593
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.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.531A>G (p.Thr177=) rs577963506 0.00093
NM_012293.3(PXDN):c.2385G>A (p.Pro795=) rs373265335 0.00091
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.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.270A>G (p.Thr90=) rs147536472 0.00036
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys) rs151054868 0.00021
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr) rs186563338 0.00013
NM_012293.3(PXDN):c.1408+164T>C rs890055
NM_012293.3(PXDN):c.2640C>G (p.Arg880=) rs79442404
NM_012293.3(PXDN):c.272+18A>G
NM_012293.3(PXDN):c.2730A>C (p.Ile910=) rs1863135
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
NM_012293.3(PXDN):c.2821G>A (p.Val941Met) rs189824177
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=) rs147695468
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=) rs111450110
NM_012293.3(PXDN):c.4206+73G>C rs6742039
NM_012293.3(PXDN):c.4206+81A>G rs6729142

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