ClinVar Miner

List of variants studied for dentinogenesis imperfecta

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_014208.3(DSPP):c.*17G>A rs2615489 0.87779
NM_014208.3(DSPP):c.897A>G (p.Ser299=) rs2736982 0.65063
NM_014208.3(DSPP):c.136-33T>C rs13131929 0.44289
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu) rs959216315 0.04723
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.1031C>A (p.Thr344Asn) rs767387863 0.00003
NM_014208.3(DSPP):c.3248_3249insC (p.Glu1083fs) rs1553904404 0.00003
NM_014208.3(DSPP):c.2525del (p.Ser842fs) rs1395922945 0.00002
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser) rs67707918
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp) rs66883877
NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp) rs72659332
NM_014208.3(DSPP):c.133C>T (p.Gln45Ter) rs121912985
NM_014208.3(DSPP):c.135+1G>A rs1560477489
NM_014208.3(DSPP):c.135+1G>C
NM_014208.3(DSPP):c.135G>A (p.Gln45=)
NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)
NM_014208.3(DSPP):c.1661G>A (p.Ser554Asn) rs1727806052
NM_014208.3(DSPP):c.1805del (p.Ser602fs)
NM_014208.3(DSPP):c.1874_1877del (p.Asp625fs) rs781361596
NM_014208.3(DSPP):c.2317del (p.Ser773fs)
NM_014208.3(DSPP):c.2427del (p.Ser809fs)
NM_014208.3(DSPP):c.2833del (p.Ser945fs)
NM_014208.3(DSPP):c.2852del (p.Ser951fs)
NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg) rs535605955
NM_014208.3(DSPP):c.3438del (p.Asp1146fs) rs1560480632
NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp) rs1727933220
NM_014208.3(DSPP):c.3538_3550del (p.Ser1180fs)
NM_014208.3(DSPP):c.3555del (p.Asp1185fs)
NM_014208.3(DSPP):c.3565_3566insCAGCAGCGATA (p.Ser1189fs) rs2109998972
NM_014208.3(DSPP):c.3611del (p.Ser1204fs) rs2109999064
NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs) rs1727756750
NM_014208.3(DSPP):c.3696_3699del (p.Asn1232fs)
NM_014208.3(DSPP):c.44C>T (p.Ala15Val) rs121912989
NM_014208.3(DSPP):c.52-2del
NM_014208.3(DSPP):c.52G>T (p.Val18Phe) rs121912987
NM_014208.3(DSPP):c.53T>A (p.Val18Asp) rs1727745724
NM_014208.3(DSPP):c.53T>G (p.Val18Gly) rs1727745724

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