List of variants in gene DSPP reported as pathogenic for dentinogenesis imperfecta type 2

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)	rs36094464	0.14530
NM_014208.3(DSPP):c.2525del (p.Ser842fs)	rs1395922945	0.00002
NM_014208.3(DSPP):c.133C>T (p.Gln45Ter)	rs121912985
NM_014208.3(DSPP):c.135+1G>A	rs1560477489
NM_014208.3(DSPP):c.2317del (p.Ser773fs)
NM_014208.3(DSPP):c.2427del (p.Ser809fs)
NM_014208.3(DSPP):c.3438del (p.Asp1146fs)	rs1560480632
NM_014208.3(DSPP):c.3538_3550del (p.Ser1180fs)
NM_014208.3(DSPP):c.3555del (p.Asp1185fs)
NM_014208.3(DSPP):c.44C>T (p.Ala15Val)	rs121912989
NM_014208.3(DSPP):c.52G>T (p.Val18Phe)	rs121912987
NM_014208.3(DSPP):c.53T>G (p.Val18Gly)	rs1727745724

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