ClinVar Miner

List of variants reported as pathogenic for COG7 congenital disorder of glycosylation

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.435+2T>C rs201446992 0.00022
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_153603.4(COG7):c.1330C>T (p.Arg444Ter) rs780863769 0.00003
NM_153603.4(COG7):c.1056T>G (p.Tyr352Ter) rs1351862780 0.00001
NM_153603.4(COG7):c.1498dup (p.Tyr500fs) rs1963459711 0.00001
NM_153603.4(COG7):c.170-7A>G rs1555496968 0.00001
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp) rs768615420 0.00001
NC_000016.9:g.(?_23417377)_(23417603_?)del
NM_153603.4(COG7):c.1255dup (p.Cys419fs) rs1963666828
NM_153603.4(COG7):c.1375del (p.Gln459fs) rs2506592783
NM_153603.4(COG7):c.1476-1G>T rs1555493029
NM_153603.4(COG7):c.169+4A>C rs1555497568
NM_153603.4(COG7):c.1702C>T (p.Arg568Ter)
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter) rs2506567482
NM_153603.4(COG7):c.1808G>A (p.Trp603Ter) rs1963314793
NM_153603.4(COG7):c.1A>G (p.Met1Val) rs1051352713
NM_153603.4(COG7):c.323dup (p.Leu108fs) rs797044712
NM_153603.4(COG7):c.343_344insTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCGCTCCCTCTCCCGGCTCCCGCTCCCGCTCCCGGGGCCCTCTCCCGCGCGCGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAATTGACCAAGTGA (p.Lys115delinsIleProLeuProLeuProSerProSerProSerProValSerArgSerLeuSerArgLeuProLeuProLeuProGlyProSerProAlaArgGlyXaaXaaXaaXaaLysLysLysLysLysLysArgAsnTer)
NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer) rs2506639430
NM_153603.4(COG7):c.79G>T (p.Glu27Ter)

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