ClinVar Miner

List of variants in gene PIGN reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_176787.5(PIGN):c.2284-1G>C rs760977825 0.00006
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.1251+1G>A rs1462805697 0.00003
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_176787.5(PIGN):c.439A>T (p.Lys147Ter) rs370389707 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_176787.5(PIGN):c.1189A>T (p.Lys397Ter) rs1050258088 0.00001
NM_176787.5(PIGN):c.1252-2A>G rs1360977917 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.1485del (p.Ala496fs) rs1568185349 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) rs397514475 0.00001
NM_176787.5(PIGN):c.505C>T (p.Gln169Ter) rs369966550 0.00001
NM_176787.5(PIGN):c.661C>T (p.Arg221Ter) rs1382897257 0.00001
NM_176787.5(PIGN):c.694A>T (p.Lys232Ter) rs886039218 0.00001
NM_176787.5(PIGN):c.981dup (p.Met328fs) rs776697598 0.00001
NC_000018.10:g.(?_62154545)_(62157808_?)del
NC_000018.10:g.62085265del
NC_000018.9:g.(?_59713069)_(59828606_?)del
NC_000018.9:g.(?_59763071)_(59763193_?)del
NC_000018.9:g.(?_59768298)_(59770145_?)del
NC_000018.9:g.(?_59805456)_(59806328_?)del
NC_000018.9:g.(?_59805466)_(59806318_?)del
NM_176787.5(PIGN):c.1066A>T (p.Lys356Ter)
NM_176787.5(PIGN):c.1132A>T (p.Lys378Ter)
NM_176787.5(PIGN):c.1151dup (p.Phe385fs)
NM_176787.5(PIGN):c.1172+1G>A
NM_176787.5(PIGN):c.11del (p.Phe4fs)
NM_176787.5(PIGN):c.1246del (p.Glu416fs)
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs) rs1444518753
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797
NM_176787.5(PIGN):c.1362G>A (p.Trp454Ter)
NM_176787.5(PIGN):c.1494dup (p.Leu499fs) rs750418747
NM_176787.5(PIGN):c.1517G>A (p.Trp506Ter) rs2146506059
NM_176787.5(PIGN):c.1518G>A (p.Trp506Ter)
NM_176787.5(PIGN):c.1533T>A (p.Tyr511Ter)
NM_176787.5(PIGN):c.1556G>A (p.Trp519Ter)
NM_176787.5(PIGN):c.1600del (p.Val534fs)
NM_176787.5(PIGN):c.1614del (p.Tyr539fs)
NM_176787.5(PIGN):c.1617T>A (p.Tyr539Ter)
NM_176787.5(PIGN):c.1646_1647insTTCTGTT (p.Leu549fs)
NM_176787.5(PIGN):c.1665_1668dup (p.Val557Ter) rs2146439342
NM_176787.5(PIGN):c.1688dup (p.Tyr564fs) rs768557691
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1732del (p.Trp578fs)
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.1767+1del
NM_176787.5(PIGN):c.179dup (p.Tyr60Ter)
NM_176787.5(PIGN):c.181G>T (p.Glu61Ter) rs200199765
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter) rs765995917
NM_176787.5(PIGN):c.1921A>T (p.Arg641Ter)
NM_176787.5(PIGN):c.1924_1928del (p.Arg641_Lys642insTer)
NM_176787.5(PIGN):c.1940del (p.Lys647fs) rs1555682938
NM_176787.5(PIGN):c.195del (p.Asn65fs)
NM_176787.5(PIGN):c.1966C>T (p.Gln656Ter) rs886039217
NM_176787.5(PIGN):c.2004T>G (p.Tyr668Ter)
NM_176787.5(PIGN):c.2004_2005del (p.Tyr668_Ser669delinsTer)
NM_176787.5(PIGN):c.2020del (p.Leu674fs)
NM_176787.5(PIGN):c.2026_2027del (p.Arg676fs) rs2034420069
NM_176787.5(PIGN):c.2129del (p.Leu710fs)
NM_176787.5(PIGN):c.2147C>G (p.Ser716Ter) rs1173098029
NM_176787.5(PIGN):c.2193_2194del (p.Phe732fs) rs2033909461
NM_176787.5(PIGN):c.221+1dup rs2147616335
NM_176787.5(PIGN):c.2237_2238del (p.Ile746fs)
NM_176787.5(PIGN):c.2251_2252del (p.Leu751fs) rs1341720994
NM_176787.5(PIGN):c.2329C>T (p.Arg777Ter)
NM_176787.5(PIGN):c.2397dup (p.Gly800fs) rs867437443
NM_176787.5(PIGN):c.2399G>A (p.Gly800Glu)
NM_176787.5(PIGN):c.2423dup (p.Asn808fs) rs2145961535
NM_176787.5(PIGN):c.2441_2442del (p.Ser814fs) rs2033603128
NM_176787.5(PIGN):c.2443_2450del (p.Val815fs) rs2033602281
NM_176787.5(PIGN):c.2463_2464del (p.Phe822fs)
NM_176787.5(PIGN):c.2482G>T (p.Gly828Ter)
NM_176787.5(PIGN):c.2498G>A (p.Trp833Ter)
NM_176787.5(PIGN):c.24del (p.Leu9fs)
NM_176787.5(PIGN):c.2575del (p.Ser859fs)
NM_176787.5(PIGN):c.2646_2647insA (p.Gly883fs)
NM_176787.5(PIGN):c.2655del (p.Trp885fs)
NM_176787.5(PIGN):c.329_549+1907del
NM_176787.5(PIGN):c.347G>A (p.Trp116Ter) rs2147517821
NM_176787.5(PIGN):c.408G>A (p.Trp136Ter)
NM_176787.5(PIGN):c.465T>A (p.Tyr155Ter)
NM_176787.5(PIGN):c.491_492del (p.Glu164fs) rs748817187
NM_176787.5(PIGN):c.530G>A (p.Trp177Ter)
NM_176787.5(PIGN):c.531G>A (p.Trp177Ter)
NM_176787.5(PIGN):c.601_602insT (p.Glu201fs)
NM_176787.5(PIGN):c.604_608del (p.Glu202fs)
NM_176787.5(PIGN):c.620del (p.Phe207fs) rs1237915292
NM_176787.5(PIGN):c.629T>G (p.Leu210Ter)
NM_176787.5(PIGN):c.637del (p.Gly212_Ile213insTer)
NM_176787.5(PIGN):c.718G>T (p.Glu240Ter)
NM_176787.5(PIGN):c.804G>T (p.Trp268Cys) rs1057520345
NM_176787.5(PIGN):c.808T>C (p.Ser270Pro) rs587777186
NM_176787.5(PIGN):c.817dup (p.Ala273fs)
NM_176787.5(PIGN):c.895C>T (p.Gln299Ter)
NM_176787.5(PIGN):c.917dup (p.Leu306fs)
NM_176787.5(PIGN):c.941G>A (p.Trp314Ter)

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