ClinVar Miner

List of variants in gene PIGN reported as pathogenic by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_176787.5(PIGN):c.1674+1G>C rs376355678 0.00004
NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter) rs749334082 0.00004
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) rs397514475 0.00001
NM_176787.5(PIGN):c.694A>T (p.Lys232Ter) rs886039218 0.00001
NM_176787.5(PIGN):c.1966C>T (p.Gln656Ter) rs886039217
NM_176787.5(PIGN):c.324_549+196del
NM_176787.5(PIGN):c.755A>T (p.Asp252Val) rs886039216
NM_176787.5(PIGN):c.808T>C (p.Ser270Pro) rs587777186

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