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: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 16

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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.562-1G>A
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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