ClinVar Miner

List of variants reported by Department of Prosthodontics, Peking University School and Hospital of Stomatology

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) rs151195196 0.00254
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) rs201067849 0.00020
NM_022336.4(EDAR):c.871G>A (p.Ala291Thr) rs200267845 0.00012
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_002336.3(LRP6):c.1406C>T (p.Pro469Leu) rs869320638 0.00001
NM_001202.6(BMP4):c.58G>A (p.Gly20Ser) rs1566581714
NM_001202.6(BMP4):c.614T>C (p.Val205Ala) rs1566579495
NM_001204.7(BMPR2):c.1429A>G (p.Lys477Glu)
NM_001372076.1(PAX9):c.191G>T (p.Gly64Val) rs2139108057
NM_001372076.1(PAX9):c.350T>G (p.Val117Gly) rs2139108314
NM_001372076.1(PAX9):c.354del (p.Ser119fs) rs2139108320
NM_001372076.1(PAX9):c.648dup (p.Tyr217fs) rs2139112502
NM_001399.5(EDA):c.595_613del (p.Pro199fs) rs2147509712
NM_001399.5(EDA):c.837G>A (p.Met279Ile)
NM_002336.3(LRP6):c.1154G>C (p.Arg385Pro) rs374598321
NM_002336.3(LRP6):c.2840T>C (p.Met947Thr) rs2136919683
NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?) rs515726227
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn) rs1960893142
NM_004655.4(AXIN2):c.314T>G (p.Val105Gly) rs752881223
NM_005220.3(DLX3):c.534G>C (p.Gln178His) rs2144182867
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) rs121908452
NM_022336.4(EDAR):c.404G>A (p.Cys135Tyr) rs1482191386
NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter) rs1553623389
NM_025216.3(WNT10A):c.353A>G (p.Tyr118Cys)
NM_025216.3(WNT10A):c.812G>A (p.Cys271Tyr)
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser) rs1011303295
NM_025216.3(WNT10A):c.898_899del (p.Ile300fs) rs1553623281
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_025216.3(WNT10A):c.985C>T (p.Arg329Ter)
NM_152365.3(KDF1):c.920G>C (p.Arg307Pro) rs1306524391

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