List of variants in gene MCCC1 reported as likely pathogenic for not provided

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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_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.1277T>C (p.Val426Ala)	rs398124351
NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile)	rs1000891879
NM_020166.5(MCCC1):c.1973_1977+28del	rs776641008
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)	rs746267545
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)	rs1307589698
NM_020166.5(MCCC1):c.369+1G>A
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)	rs1553862845
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)

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