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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_153603.4(COG7):c.435+2T>C	rs201446992	0.00023
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_153603.4(COG7):c.1476-1G>T	rs1555493029
NM_153603.4(COG7):c.1498dup (p.Tyr500fs)
NM_153603.4(COG7):c.169+4A>C	rs1555497568
NM_153603.4(COG7):c.170-7A>G	rs1555496968
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)
NM_153603.4(COG7):c.1A>G (p.Met1Val)	rs1051352713

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