ClinVar Miner

List of variants reported as benign for bone resorption disease

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.19698
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524 0.02591
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_003052.5(SLC34A1):c.223C>T (p.Pro75Ser) rs61753440 0.01801
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121 0.01269
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) rs145798898 0.00188
NM_003052.5(SLC34A1):c.-11G>C rs368569333 0.00119
NM_003052.5(SLC34A1):c.260-14C>T rs78851308 0.00115
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met) rs143201338 0.00066
NM_003052.5(SLC34A1):c.782G>A (p.Arg261His) rs144306414 0.00066
NM_003052.5(SLC34A1):c.1416+5G>A rs202081023 0.00036
NM_003052.5(SLC34A1):c.74G>A (p.Arg25Gln) rs112528230 0.00036
NM_003052.5(SLC34A1):c.*315C>T rs189282945 0.00022
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) rs34044544 0.00016
NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp) rs148669433 0.00016
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_003052.5(SLC34A1):c.*431C>T rs139531166 0.00001
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.388+10G>C rs59750868

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