List of variants in gene MMP20 reported as likely pathogenic for Amelogenesis imperfecta hypomaturation type 2A2

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)	rs61730849	0.00180
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)
NM_004771.4(MMP20):c.359dup (p.Asn120fs)
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	rs199788797

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