ClinVar Miner

List of variants studied for bone resorption disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
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_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
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_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_003052.5(SLC34A1):c.*65G>A rs974632595 0.00081
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.*331A>G rs773037239 0.00042
NM_003052.5(SLC34A1):c.-68G>A rs774774202 0.00041
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.*239C>A rs768911630 0.00029
NM_003052.5(SLC34A1):c.*315C>T rs189282945 0.00022
NM_003052.5(SLC34A1):c.*241C>T rs774564955 0.00017
NM_003052.5(SLC34A1):c.*301T>C rs769685421 0.00016
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.*323G>A rs886060469 0.00013
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.1443C>T (p.Asn481=) rs137867155 0.00005
NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) rs1163121743 0.00005
NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr) rs763096294 0.00004
NM_003052.5(SLC34A1):c.123C>T (p.Ile41=) rs759907707 0.00002
NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu) rs372577906 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_003052.5(SLC34A1):c.*212G>T rs749467217 0.00001
NM_003052.5(SLC34A1):c.*392A>G rs886060470 0.00001
NM_003052.5(SLC34A1):c.*431C>T rs139531166 0.00001
NM_003052.5(SLC34A1):c.*505C>T rs1434332460 0.00001
NM_003052.5(SLC34A1):c.*60G>A rs886060467 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003052.5(SLC34A1):c.110-6C>T rs773115741 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.315A>C (p.Pro105=) rs758409228 0.00001
NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr) rs771178295 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_003052.5(SLC34A1):c.*196C>T rs1182223345
NM_003052.5(SLC34A1):c.*406C>T rs1763052743
NM_003052.5(SLC34A1):c.*52C>T rs1763040748
NM_003052.5(SLC34A1):c.*79G>C rs886060468
NM_003052.5(SLC34A1):c.-48G>C rs886060466
NM_003052.5(SLC34A1):c.1174+9C>T rs752762105
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.388+10G>C rs59750868
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) rs150592440

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