ClinVar Miner

List of variants reported as not provided for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_001177316.2(SLC34A3):c.704C>T (p.Ala235Val) rs756672024 0.00006
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) rs1291061962 0.00001
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser) rs1182722973 0.00001
NM_003701.4(TNFSF11):c.92A>T (p.His31Leu) rs1471498841 0.00001
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000376.3(VDR):c.1104_1105inv (p.Cys369Gly)
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) rs121434435
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg) rs397515539
NM_002335.4(LRP5):c.4349-8C>A rs2153181939
NM_003701.4(TNFSF11):c.2T>G (p.Met1Arg) rs201199211
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) rs121908249
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_025237.3(SOST):c.220+1G>C rs952785856
NM_025237.3(SOST):c.220+3A>T rs2154590472
NM_025237.3(SOST):c.296dup (p.Val100fs) rs1974122996
NM_025237.3(SOST):c.371G>A (p.Trp124Ter) rs2154590429
NM_025237.3(SOST):c.372G>A (p.Trp124Ter) rs104894644
NM_025237.3(SOST):c.376C>T (p.Arg126Ter) rs104894645
NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer) rs2154590427
NM_025237.3(SOST):c.499T>C (p.Cys167Arg) rs2154590425
NM_025237.3(SOST):c.69C>T (p.Gly23=) rs1461545319
NM_025237.3(SOST):c.79C>T (p.Gln27Ter) rs2154590473
NM_025237.3(SOST):c.87dup (p.Lys30fs) rs377648601
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) rs1946427260

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