ClinVar Miner

List of variants reported as uncertain significance 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: 21
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.*65G>A rs974632595 0.00081
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.*239C>A rs768911630 0.00029
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.*323G>A rs886060469 0.00013
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.*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.94G>A (p.Val32Met) rs778803636 0.00001
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

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