ClinVar Miner

List of variants in gene HMGCL reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln) rs199587895 0.00001
NM_000191.3(HMGCL):c.704A>G (p.His235Arg) rs990313450 0.00001
NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.876+1G>C rs779802353
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431

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