ClinVar Miner

List of variants reported as benign for congenital disorder of glycosylation, type IIq by Invitae

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_007357.3(COG2):c.2217A>G (p.Ter739=) rs1051038 0.24224
NM_007357.3(COG2):c.912T>A (p.Asn304Lys) rs6681346 0.06884
NM_007357.3(COG2):c.1036A>G (p.Ile346Val) rs11558606 0.05635
NM_007357.3(COG2):c.264T>G (p.Leu88=) rs16852160 0.03286
NM_007357.3(COG2):c.1765G>A (p.Val589Ile) rs34109129 0.01764
NM_007357.3(COG2):c.567C>T (p.Gly189=) rs77326385 0.00855
NM_007357.3(COG2):c.708G>A (p.Thr236=) rs34010781 0.00660
NM_007357.3(COG2):c.1014T>C (p.Asp338=) rs113173809 0.00426
NM_007357.3(COG2):c.183C>T (p.Val61=) rs79749108 0.00410
NM_007357.3(COG2):c.2166C>T (p.Leu722=) rs2296801 0.00080
NM_007357.3(COG2):c.312G>A (p.Ser104=)

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