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

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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: 6

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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.910G>A (p.Ala304Thr)	rs148818720	0.00153
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)	rs781178683	0.00001
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	rs199788797	0.00001
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)	rs761478767
NM_004771.4(MMP20):c.359dup (p.Asn120fs)	rs759614533

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