List of variants in gene combination ITGA6, PDK1 reported as benign for Junctional epidermolysis bullosa with pyloric atresia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_000210.4(ITGA6):c.*435A>G	rs17664	0.50450
NM_000210.4(ITGA6):c.2082C>T (p.Asp694=)	rs2293649	0.24360
NM_000210.4(ITGA6):c.*595C>T	rs114005087	0.04194
NM_000210.4(ITGA6):c.*2374T>C	rs16860642	0.03818
NM_000210.4(ITGA6):c.2788G>A (p.Val930Met)	rs10209072	0.03264
NM_000210.4(ITGA6):c.*1194A>G	rs16860635	0.02532
NM_000210.4(ITGA6):c.2296G>T (p.Asp766Tyr)	rs2737085	0.02255
NM_000210.4(ITGA6):c.*2309C>T	rs140413358	0.00826
NM_000210.4(ITGA6):c.*2349T>C	rs16860641	0.00704
NM_000210.4(ITGA6):c.2820G>A (p.Pro940=)	rs34599583	0.00669
NM_000210.4(ITGA6):c.2247C>G (p.Val749=)	rs61748247	0.00663
NM_000210.4(ITGA6):c.*58T>C	rs150113724	0.00509
NM_000210.4(ITGA6):c.*2088T>G	rs114786166	0.00438
NM_000210.4(ITGA6):c.1744A>G (p.Ile582Val)	rs16860530	0.00428
NM_000210.4(ITGA6):c.*1459G>T	rs142884581	0.00362
NM_000210.4(ITGA6):c.2862G>C (p.Ser954=)	rs61757097	0.00328
NM_000210.4(ITGA6):c.2989-6C>T	rs147900066	0.00239
NM_000210.4(ITGA6):c.*1655G>T	rs117775734	0.00038
NM_000210.4(ITGA6):c.*1809T>C	rs6759915
NM_000210.4(ITGA6):c.2136A>T (p.Ala712=)	rs2293648

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