List of variants in gene combination ELP4, PAX6 reported as likely benign for anterior segment dysgenesis

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_019040.5(ELP4):c.*3509A>G	rs542906080	0.04927
NM_019040.5(ELP4):c.*3425C>T	rs3026399	0.00813
NM_001368894.2(PAX6):c.*417C>T	rs55756603	0.00810
NM_019040.5(ELP4):c.*4172A>C	rs73477658	0.00701
NM_019040.5(ELP4):c.*2740G>A	rs149777109	0.00394
NM_019040.5(ELP4):c.*3242G>A	rs187705792	0.00303
NM_019040.5(ELP4):c.*3713A>T	rs138881442	0.00236
NM_019040.5(ELP4):c.*4932G>A	rs181818313	0.00198
NM_019040.5(ELP4):c.*2040G>C	rs183115097	0.00194
NM_019040.5(ELP4):c.*3904G>A	rs3026397	0.00189
NM_019040.5(ELP4):c.*1302T>C	rs146579778	0.00120
NM_019040.5(ELP4):c.*2525C>A	rs183433948	0.00096
NM_001368894.2(PAX6):c.*841C>T	rs530931929	0.00031
NM_019040.5(ELP4):c.*1783T>G	rs140971065	0.00030
NM_019040.5(ELP4):c.*3383C>T	rs541022955	0.00017
NM_019040.5(ELP4):c.*4806T>A	rs189545730	0.00011
NM_019040.5(ELP4):c.*5123T>A	rs576321279	0.00008
NM_019040.5(ELP4):c.*3092T>C	rs371438311	0.00006
NM_019040.5(ELP4):c.*2664G>A	rs567720234	0.00005
NM_019040.5(ELP4):c.*1714C>G	rs180780893	0.00002
NM_001368894.2(PAX6):c.1242T>G (p.Gly414=)	rs372956285	0.00001
NM_001368894.2(PAX6):c.1226-13C>T	rs2134386969
NM_001368894.2(PAX6):c.1226-4C>G	rs11031477
NM_001368894.2(PAX6):c.1226-7C>T
NM_001368894.2(PAX6):c.1230C>A (p.Leu410=)	rs776244636
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)
NM_019040.5(ELP4):c.*1811A>C	rs185968715
NM_019040.5(ELP4):c.*4251G>A	rs3026396

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