ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, autosomal recessive 53 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00072
NM_001127178.3(PIGG):c.1994del (p.Cys665fs) rs755634856 0.00002
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481 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.2244dup (p.Ser749fs) rs2474992925 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.801del (p.Asp268fs) rs1720864617 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.(?_493125)_(501402_?)del
NC_000004.11:g.(?_493125)_(663896_?)del
NC_000004.11:g.(?_493125)_(998181_?)del
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.(?_520808)_(1020391_?)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.1231C>T (p.Gln411Ter) rs780498908
NM_001127178.3(PIGG):c.1285dup (p.Gln429fs) rs777479274
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) rs1293009471
NM_001127178.3(PIGG):c.1603dup (p.Thr535fs)
NM_001127178.3(PIGG):c.1641G>A (p.Trp547Ter) rs1327006026
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs) rs1226175402
NM_001127178.3(PIGG):c.1733_1734del (p.Trp578fs) rs2108966214
NM_001127178.3(PIGG):c.1736_1758del (p.Tyr579fs) rs2474930870
NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs) rs1726676630
NM_001127178.3(PIGG):c.1811_1812del (p.Glu604fs) rs2474932815
NM_001127178.3(PIGG):c.1824_1834del (p.Leu609fs) rs2474933072
NM_001127178.3(PIGG):c.1897C>T (p.Arg633Ter) rs749476176
NM_001127178.3(PIGG):c.1923dup (p.Thr642fs) rs2108968160
NM_001127178.3(PIGG):c.2129_2130del (p.Val710fs) rs2474989324
NM_001127178.3(PIGG):c.2209del (p.Ala737fs) rs2108995799
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) rs2475049976
NM_001127178.3(PIGG):c.2330T>G (p.Leu777Ter) rs1728784661
NM_001127178.3(PIGG):c.2332del (p.Lys779fs) rs2475050827
NM_001127178.3(PIGG):c.2334del (p.Lys779fs) rs2475050873
NM_001127178.3(PIGG):c.2444del (p.Pro815fs) rs1183515598
NM_001127178.3(PIGG):c.2760del (p.Phe921fs) rs2475197732
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.571del rs1553880098
NM_001127178.3(PIGG):c.623G>A (p.Trp208Ter) rs1720118439
NM_001127178.3(PIGG):c.766G>T (p.Glu256Ter) rs868977191
NM_001127178.3(PIGG):c.768_769del (p.Glu256fs) rs1229339759
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759
NM_001127178.3(PIGG):c.785del (p.Leu262fs) rs2108814954
NM_001127178.3(PIGG):c.901+1del rs782318668
NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter) rs759656227

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