List of variants in gene C12orf57 reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	0.00003
NM_138425.4(C12orf57):c.154C>T (p.Gln52Ter)	rs1555146046	0.00001
NM_138425.4(C12orf57):c.19C>T (p.Gln7Ter)	rs782502903	0.00001
NM_138425.4(C12orf57):c.43C>T (p.Gln15Ter)	rs1565574197	0.00001
NC_000012.11:g.(?_7053265)_(7055105_?)del
NM_138425.4(C12orf57):c.143del (p.Gly48fs)	rs2542670199
NM_138425.4(C12orf57):c.161_162del (p.Val54fs)	rs782424035
NM_138425.4(C12orf57):c.182del (p.Ile61fs)	rs1591674823
NM_138425.4(C12orf57):c.2T>G (p.Met1Arg)
NM_138425.4(C12orf57):c.41dup (p.Gln15fs)	rs782435454
NM_138425.4(C12orf57):c.4del (p.Ala2fs)	rs1359105410

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