ClinVar Miner

List of variants reported as uncertain significance for dentinogenesis imperfecta

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011 0.00345
NM_014208.3(DSPP):c.1847G>A (p.Ser616Asn) rs375994683 0.00016
NM_014208.3(DSPP):c.981G>T (p.Glu327Asp) rs778282028 0.00004
NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)
NM_014208.3(DSPP):c.1661G>A (p.Ser554Asn) rs1727806052
NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg) rs535605955
NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp) rs1727933220
NM_014208.3(DSPP):c.3696_3699del (p.Asn1232fs)

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