List of variants reported as benign for corneal disorder by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 83

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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_019040.5(ELP4):c.*3998C>T	rs662702	0.14929
NM_012293.3(PXDN):c.3953-14T>C	rs7578605	0.09206
NM_012293.3(PXDN):c.1568-19C>G	rs7588627	0.07897
NM_001368894.2(PAX6):c.808-12C>T	rs667773	0.05916
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_001368894.2(PAX6):c.-129+9G>A	rs56139994	0.02711
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_021615.5(CHST6):c.258A>C (p.Ala86=)	rs61740901	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_001368894.2(PAX6):c.369G>A (p.Glu123=)	rs114384476	0.01168
NM_012293.3(PXDN):c.4321-16C>T	rs113997519	0.01052
NM_021615.5(CHST6):c.120C>T (p.Arg40=)	rs61740904	0.01016
NM_021615.5(CHST6):c.768C>T (p.Ala256=)	rs146465655	0.00857
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_021615.5(CHST6):c.465G>A (p.Arg155=)	rs141905571	0.00619
NM_021615.5(CHST6):c.294C>G (p.Ser98=)	rs118144424	0.00618
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_021615.5(CHST6):c.129G>A (p.Val43=)	rs112939575	0.00366
NM_021615.5(CHST6):c.666C>T (p.Asn222=)	rs148529501	0.00284
NM_012293.3(PXDN):c.1392C>T (p.Ile464=)	rs61749582	0.00278
NM_021615.5(CHST6):c.237C>T (p.Thr79=)	rs112148613	0.00247
NM_012293.3(PXDN):c.1176G>T (p.Thr392=)	rs140056124	0.00223
NM_021615.5(CHST6):c.130C>T (p.Leu44=)	rs140675009	0.00219
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_001368894.2(PAX6):c.1075-275A>C	rs3026392	0.00180
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)	rs141873759	0.00175
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_021615.5(CHST6):c.993G>T (p.Gln331His)	rs140699573	0.00101
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_021615.5(CHST6):c.828G>A (p.Leu276=)	rs140327212	0.00085
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)	rs149053004	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.4437C>T (p.Pro1479=)	rs144382074	0.00051
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr)	rs79173362	0.00051
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)	rs146261351	0.00048
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_001368894.2(PAX6):c.753G>A (p.Val251=)	rs145329506	0.00038
NM_012293.3(PXDN):c.270A>G (p.Thr90=)	rs147536472	0.00036
NM_001368894.2(PAX6):c.978C>T (p.Gly326=)	rs115833025	0.00035
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_001368894.2(PAX6):c.1236C>T (p.Ser412=)	rs78290542	0.00011
NM_021615.5(CHST6):c.15C>T (p.Arg5=)	rs762744897	0.00009
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)	rs202154006	0.00004
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)	rs200015827	0.00003
NM_001368894.2(PAX6):c.959-7C>T	rs750093295	0.00003
NM_001368894.2(PAX6):c.243A>G (p.Arg81=)	rs771974160	0.00001
NM_001368894.2(PAX6):c.724+14del	rs772158967
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_021615.5(CHST6):c.484C>G (p.Arg162Gly)	rs117435647

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