ClinVar Miner

List of variants in gene COG4 studied for microcephalic osteodysplastic dysplasia, Saul-Wilson type

Included ClinVar conditions (2):
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_015386.3(COG4):c.1482-25T>C rs2303793 0.46944
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_015386.3(COG4):c.845-18T>C rs116746214 0.01342
NM_015386.3(COG4):c.373C>T (p.Arg125Cys) rs757774654 0.00014
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter) rs1048764460 0.00006
NM_015386.3(COG4):c.811A>G (p.Ile271Val) rs551058375 0.00002
NM_015386.3(COG4):c.490C>T (p.Arg164Cys) rs769331901 0.00001
NM_015386.3(COG4):c.1002+1G>T
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015386.3(COG4):c.1546G>C (p.Gly516Arg) rs1555575860
NM_015386.3(COG4):c.2006C>T (p.Ala669Val)
NM_015386.3(COG4):c.2026T>C (p.Tyr676His) rs2151737380
NM_015386.3(COG4):c.433G>T (p.Gly145Ter)

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