ClinVar Miner

List of variants in gene PIGG reported as pathogenic for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys) rs372392424 0.00010
NM_001127178.3(PIGG):c.1994del (p.Cys665fs) rs755634856 0.00002
NM_001127178.3(PIGG):c.2041C>T (p.Arg681Trp) rs899791968 0.00002
NM_001127178.3(PIGG):c.1640G>A (p.Trp547Ter) rs547951371 0.00001
NM_001127178.3(PIGG):c.1803del (p.Asp601fs) rs1377893089 0.00001
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter) rs1294683568 0.00001
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs) rs1491240980 0.00001
NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter) rs782124562 0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) rs1418085145 0.00001
NM_001127178.3(PIGG):c.624G>A (p.Trp208Ter) rs1553880152 0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_001127178.3(PIGG):c.928C>T (p.Gln310Ter) rs869320772 0.00001
NC_000004.11:g.(?_494165)_(494410_?)del
NC_000004.11:g.(?_501174)_(533158_?)del
NC_000004.11:g.(?_502598)_(509994_?)del
NC_000004.11:g.(?_509742)_(533158_?)del
NC_000004.11:g.(?_524205)_(527790_?)del
NM_001127178.3(PIGG):c.1106_1107del (p.Ser368_Tyr369insTer) rs1560313832
NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter) rs1560330387
NM_001127178.3(PIGG):c.1173_1174del (p.Tyr392fs) rs2108940028
NM_001127178.3(PIGG):c.1193C>G (p.Ser398Ter)
NM_001127178.3(PIGG):c.1231C>T (p.Gln411Ter) rs780498908
NM_001127178.3(PIGG):c.1285dup (p.Gln429fs)
NM_001127178.3(PIGG):c.1489dup (p.Ser497fs) rs1577094794
NM_001127178.3(PIGG):c.1544_1545del (p.Ala515fs) rs2108949204
NM_001127178.3(PIGG):c.1562_1563del (p.Val521fs)
NM_001127178.3(PIGG):c.1641G>A (p.Trp547Ter)
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)
NM_001127178.3(PIGG):c.1733_1734del (p.Trp578fs) rs2108966214
NM_001127178.3(PIGG):c.1736_1758del (p.Tyr579fs)
NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs) rs1726676630
NM_001127178.3(PIGG):c.1811_1812del (p.Glu604fs)
NM_001127178.3(PIGG):c.1824_1834del (p.Leu609fs)
NM_001127178.3(PIGG):c.1897C>T (p.Arg633Ter)
NM_001127178.3(PIGG):c.1923dup (p.Thr642fs) rs2108968160
NM_001127178.3(PIGG):c.1956G>A (p.Trp652Ter)
NM_001127178.3(PIGG):c.2088G>C (p.Glu696Asp) rs1203666288
NM_001127178.3(PIGG):c.2129_2130del (p.Val710fs)
NM_001127178.3(PIGG):c.2209del (p.Ala737fs) rs2108995799
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)
NM_001127178.3(PIGG):c.2261+1G>C rs869320773
NM_001127178.3(PIGG):c.2288_2289del (p.Tyr763fs) rs1728769445
NM_001127178.3(PIGG):c.2294_2295del (p.Phe765fs)
NM_001127178.3(PIGG):c.2330T>G (p.Leu777Ter)
NM_001127178.3(PIGG):c.2332del (p.Lys779fs)
NM_001127178.3(PIGG):c.2334del (p.Lys779fs)
NM_001127178.3(PIGG):c.2444del (p.Pro815fs)
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127178.3(PIGG):c.2760del (p.Phe921fs)
NM_001127178.3(PIGG):c.2872G>T (p.Glu958Ter) rs775379047
NM_001127178.3(PIGG):c.309_310del (p.His103fs) rs1553875180
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127178.3(PIGG):c.366_381del (p.Leu122fs) rs1719440437
NM_001127178.3(PIGG):c.570+1G>A rs1719513784
NM_001127178.3(PIGG):c.623G>A (p.Trp208Ter) rs1720118439
NM_001127178.3(PIGG):c.640C>T (p.His214Tyr) rs2108801356
NM_001127178.3(PIGG):c.766G>T (p.Glu256Ter)
NM_001127178.3(PIGG):c.768_769del (p.Glu256fs)
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759
NM_001127178.3(PIGG):c.785del (p.Leu262fs) rs2108814954
NM_001127178.3(PIGG):c.801del (p.Asp268fs)
NM_001127178.3(PIGG):c.901+1del rs782318668
NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter)
NM_001289052.2(PIGG):c.361-1424del rs1553880098

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