List of variants in gene MCCC1 reported as likely pathogenic by GeneDx

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)	rs376289130	0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)	rs201041864	0.00011
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)	rs119103217	0.00002
NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile)	rs1000891879
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)	rs1307589698
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)	rs1553862845

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