ClinVar Miner

List of variants in gene PIGN reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
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.2238A>G (p.Ile746Met) rs200658159 0.00117
NM_176787.5(PIGN):c.1860G>A (p.Val620=) rs374172871 0.00064
NM_176787.5(PIGN):c.471T>C (p.Tyr157=) rs188661327 0.00029
NM_176787.5(PIGN):c.1749G>A (p.Arg583=) rs200401462 0.00025
NM_176787.5(PIGN):c.1404C>T (p.Asn468=) rs201927476 0.00021
NM_176787.5(PIGN):c.2580T>A (p.Leu860=) rs199959895 0.00019
NM_176787.5(PIGN):c.459C>T (p.His153=) rs376615257 0.00019
NM_176787.5(PIGN):c.1992G>A (p.Met664Ile) rs564513512 0.00011
NM_176787.5(PIGN):c.1398T>C (p.His466=) rs61755361 0.00007
NM_176787.5(PIGN):c.1333G>A (p.Val445Ile) rs187036839 0.00005
NM_176787.5(PIGN):c.1371T>C (p.Tyr457=) rs761856805 0.00003
NM_176787.5(PIGN):c.2040G>A (p.Leu680=) rs774381597 0.00002
NM_176787.5(PIGN):c.48C>T (p.Phe16=) rs148669516 0.00002
NM_176787.5(PIGN):c.147T>C (p.Phe49=) rs1246376426 0.00001
NM_176787.5(PIGN):c.2596G>A (p.Val866Ile) rs367627571 0.00001
NM_176787.5(PIGN):c.552C>T (p.Asp184=) rs747526155 0.00001
NM_176787.5(PIGN):c.1593C>T (p.Asp531=)
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_176787.5(PIGN):c.2620-17dup rs11437076
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_176787.5(PIGN):c.2740C>T (p.Leu914=) rs1568111385
NM_176787.5(PIGN):c.2751G>A (p.Thr917=)
NM_176787.5(PIGN):c.426G>C (p.Leu142=) rs191939518
NM_176787.5(PIGN):c.657T>C (p.Ala219=)
NM_176787.5(PIGN):c.705T>C (p.Asp235=) rs1218953227

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