List of variants in gene combination ELP4, PAX6 reported as benign for autosomal dominant keratitis

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000280.4(PAX6):c.*3202G>A	rs608293	0.88020
NM_000280.4(PAX6):c.2893_2896dupATTT	rs397795797	0.87931
NM_000280.4(PAX6):c.*1184A>T	rs1506	0.72043
NM_000280.4(PAX6):c.*3958G>A	rs3026401	0.70691
NM_000280.4(PAX6):c.*2160G>A	rs12421026	0.42881
NM_000280.4(PAX6):c.*2707C>T	rs3026398	0.22983
NC_000011.10:g.31787522C>T	rs662702	0.14929
NM_000280.4(PAX6):c.*4296G>C	rs16922475	0.05615
NM_000280.4(PAX6):c.*2901T>C	rs542906080	0.04927
NM_000280.4(PAX6):c.3736_3737delCA	rs141022497	0.02792
NM_000280.4(PAX6):c.*2305G>A	rs73477656	0.02650
NM_001368894.2(PAX6):c.*842G>A	rs115045926	0.01172
NM_000280.4(PAX6):c.*2559G>A	rs141344418	0.00935
NM_000280.4(PAX6):c.*2416G>T	rs79739975	0.00857
NM_000280.4(PAX6):c.*2985G>A	rs3026399	0.00813
NM_001368894.2(PAX6):c.*417C>T	rs55756603	0.00810
NM_000280.4(PAX6):c.*2238T>G	rs73477658	0.00701
NM_000280.4(PAX6):c.*3670C>T	rs149777109	0.00394
NM_000280.4(PAX6):c.*3168C>T	rs187705792	0.00303
NM_000280.4(PAX6):c.*2697T>A	rs138881442	0.00236
NM_000280.4(PAX6):c.*1063A>G	rs117590302	0.00220
NM_000280.4(PAX6):c.*1478C>T	rs181818313	0.00198
NM_000280.4(PAX6):c.*4370C>G	rs183115097	0.00194
NM_000280.4(PAX6):c.*2506C>T	rs3026397	0.00189
NM_000280.4(PAX6):c.*1436G>A	rs138035131	0.00148
NM_000280.4(PAX6):c.*5108A>G	rs146579778	0.00120
NM_000280.4(PAX6):c.*3885G>T	rs183433948	0.00096
NM_000280.4(PAX6):c.*3428C>T	rs191399467	0.00076
NM_001368894.2(PAX6):c.*891G>A	rs530259403	0.00065
NM_000280.4(PAX6):c.*2882T>C	rs143185259	0.00060
NM_001368894.2(PAX6):c.*841C>T	rs530931929	0.00031
NM_000280.4(PAX6):c.*4627A>C	rs140971065	0.00030
NM_000280.4(PAX6):c.*3318A>G	rs371438311	0.00006
NM_000280.4(PAX6):c.*3746C>T	rs567720234	0.00005
NM_000280.4(PAX6):c.*4696G>C	rs180780893	0.00002
NM_000280.4(PAX6):c.3246_3247insTTTT	rs34919147
NM_000280.4(PAX6):c.*4599T>G	rs185968715

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