ClinVar Miner

List of variants reported as uncertain significance by Uitto Lab, Thomas Jefferson University

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.7673T>C (p.Leu2558Pro) rs1559098040 0.00001
NM_000359.3(TGM1):c.1491G>A (p.Glu497=) rs1199404507
NM_000359.3(TGM1):c.1862A>G (p.Tyr621Cys) rs1566376648
NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val) rs772257172
NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu) rs1567982884
NM_001374623.1(PNPLA1):c.205+5G>A rs1561853887
NM_173076.3(ABCA12):c.2683G>A (p.Asp895Asn) rs1559141294
NM_173076.3(ABCA12):c.5562G>A (p.Gln1854=) rs1459045233
NM_173483.4(CYP4F22):c.1493T>G (p.Leu498Arg) rs1568365210
NM_173483.4(CYP4F22):c.550-11_550-4delinsGGTGACATCTGG rs1568360470

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