ClinVar Miner

List of variants in gene PIGN reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_176787.5(PIGN):c.528G>A (p.Thr176=) rs144304758 0.00291
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123 0.00282
NM_176787.5(PIGN):c.2751G>T (p.Thr917=) rs200481058 0.00183
NM_176787.5(PIGN):c.2022A>G (p.Leu674=) rs3764491 0.00049
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
NM_176787.5(PIGN):c.1749G>A (p.Arg583=) rs200401462 0.00025
NM_176787.5(PIGN):c.1707C>T (p.Thr569=) rs375845698 0.00019
NM_176787.5(PIGN):c.459C>T (p.His153=) rs376615257 0.00019
NM_176787.5(PIGN):c.253A>G (p.Ile85Val) rs202066215 0.00018
NM_176787.5(PIGN):c.213G>A (p.Pro71=) rs370553142 0.00014
NM_176787.5(PIGN):c.2448T>C (p.Tyr816=) rs368921294 0.00010
NM_176787.5(PIGN):c.460G>A (p.Val154Ile) rs181730303 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
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.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_176787.5(PIGN):c.787C>A (p.His263Asn) rs376934090 0.00002
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.746A>G (p.Tyr249Cys) rs199555972 0.00001
NM_176787.5(PIGN):c.882A>G (p.Gln294=) rs1376888820 0.00001
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs) rs1444518753
NM_176787.5(PIGN):c.1605A>C (p.Ser535=) rs755115652
NM_176787.5(PIGN):c.1674+1G>A rs376355678
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter) rs765995917
NM_176787.5(PIGN):c.1869A>G (p.Ala623=) rs763671604
NM_176787.5(PIGN):c.2672+1G>T rs1287655964
NM_176787.5(PIGN):c.2736C>G (p.Ala912=)
NM_176787.5(PIGN):c.295G>A (p.Val99Ile) rs2147528537
NM_176787.5(PIGN):c.755A>G (p.Asp252Gly) rs886039216
NM_176787.5(PIGN):c.984G>A (p.Met328Ile) rs779323515

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