List of variants in gene ITGA6 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000210.4(ITGA6):c.1487+7A>G	rs1920979	0.39869
NM_000210.4(ITGA6):c.182+11A>G	rs6744873	0.34918
NM_000210.4(ITGA6):c.182+15C>T	rs6716540	0.34218
NM_000210.4(ITGA6):c.1138G>A (p.Ala380Thr)	rs11895564	0.30018
NM_000210.4(ITGA6):c.388-13C>A	rs1574028	0.06398
NM_000210.4(ITGA6):c.-138G>A	rs144682022	0.04049
NM_000210.4(ITGA6):c.1388+8A>T	rs16860507	0.02648
NM_000210.4(ITGA6):c.986+14A>C	rs138182078	0.00578
NM_000210.4(ITGA6):c.-14C>G	rs144341070	0.00273

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