ClinVar Miner

Variants in gene HMGCL with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
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.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.252+1G>A rs775218067
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.349_361del
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.610del (p.Asp204fs) rs2148419170
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
NM_000191.3(HMGCL):c.866del (p.Gly289fs)

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