ClinVar Miner

List of variants reported as pathogenic for Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital by OMIM

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Total variants: 4
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ITGA3, 1-BP DEL, NT1173
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp) rs797044989
NM_002204.4(ITGA3):c.1538-1G>A rs1567701091
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro) rs140781106

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