List of variants in gene combination GALK1, ITGB4 reported as likely 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000213.5(ITGB4):c.*4C>T	rs189610725	0.00703
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)	rs61735288	0.00269
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=)	rs3191773	0.00241
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)	rs73997615	0.00237
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=)	rs145351926	0.00213
NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met)	rs140575355	0.00083
NM_000213.5(ITGB4):c.4441G>A (p.Val1481Met)	rs546010811
NM_000213.5(ITGB4):c.4709-3del	rs56408237
NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=)	rs148658410
NM_000213.5(ITGB4):c.5219-15A>T	rs142184100

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