ClinVar Miner

List of variants in gene IMPG1 reported as pathogenic for not provided

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) rs367576664 0.00005
NM_001563.4(IMPG1):c.1836T>G (p.Tyr612Ter) rs147614663 0.00004
NM_001563.4(IMPG1):c.1253del (p.Gln418fs) rs868584856 0.00001
NM_001563.4(IMPG1):c.1384C>T (p.Gln462Ter) rs565336088 0.00001
NM_001563.4(IMPG1):c.1711C>T (p.Arg571Ter) rs753636102 0.00001
NM_001563.4(IMPG1):c.175C>T (p.Arg59Ter) rs200651043 0.00001
NM_001563.4(IMPG1):c.335del (p.Ile112fs) rs1783708272 0.00001
NM_001563.4(IMPG1):c.672del (p.Glu225fs) rs1562371894 0.00001
NM_001563.4(IMPG1):c.913dup (p.Thr305fs) rs1562366625 0.00001
NM_001563.4(IMPG1):c.1038del (p.Glu347fs) rs1783077289
NM_001563.4(IMPG1):c.1069del (p.Arg357fs)
NM_001563.4(IMPG1):c.1276G>T (p.Glu426Ter)
NM_001563.4(IMPG1):c.1350_1353del (p.Phe450fs)
NM_001563.4(IMPG1):c.1388del (p.Gly463fs)
NM_001563.4(IMPG1):c.1428del (p.Pro477fs)
NM_001563.4(IMPG1):c.1434del (p.Leu479fs) rs1782020453
NM_001563.4(IMPG1):c.1499del (p.Pro500fs)
NM_001563.4(IMPG1):c.1513_1514insCAGATCAGATG (p.Asp505fs) rs1323803461
NM_001563.4(IMPG1):c.151del (p.Met51fs)
NM_001563.4(IMPG1):c.151dup (p.Met51fs) rs761247695
NM_001563.4(IMPG1):c.1543_1544dup (p.Met515fs)
NM_001563.4(IMPG1):c.1561G>T (p.Glu521Ter)
NM_001563.4(IMPG1):c.1567_1574delinsTTTTGTTGACATTTGTTGACATTTGTTGACATGAAATGTTTTGTTGTCAGGAGA (p.Asp523_Ser525delinsPheCysTer)
NM_001563.4(IMPG1):c.1590del (p.Ser531fs)
NM_001563.4(IMPG1):c.1634_1638dup (p.Leu547fs) rs2149457526
NM_001563.4(IMPG1):c.17_18insT (p.Arg6fs)
NM_001563.4(IMPG1):c.1819C>T (p.Gln607Ter)
NM_001563.4(IMPG1):c.1824+1G>A rs770887047
NM_001563.4(IMPG1):c.1840C>T (p.Arg614Ter)
NM_001563.4(IMPG1):c.291T>G (p.Tyr97Ter) rs1357627980
NM_001563.4(IMPG1):c.321G>A (p.Trp107Ter) rs778553127
NM_001563.4(IMPG1):c.360_361del (p.Glu122fs)
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) rs373792616
NM_001563.4(IMPG1):c.391C>T (p.Gln131Ter) rs1233848330
NM_001563.4(IMPG1):c.421G>T (p.Gly141Ter)
NM_001563.4(IMPG1):c.487_488del (p.Phe163fs) rs1783698601
NM_001563.4(IMPG1):c.52del (p.Val18fs)
NM_001563.4(IMPG1):c.607del (p.Asp203fs)
NM_001563.4(IMPG1):c.640_643dup (p.Asn215fs)
NM_001563.4(IMPG1):c.666del (p.Glu223fs)
NM_001563.4(IMPG1):c.700C>T (p.Gln234Ter)
NM_001563.4(IMPG1):c.807+1G>A rs713993046
NM_001563.4(IMPG1):c.807+2T>A rs2149482320
NM_001563.4(IMPG1):c.98_102del (p.Thr33fs)

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