ClinVar Miner

List of variants studied for calcium metabolic disease by Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro) rs139763321 0.00014
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_000388.4(CASR):c.2738C>T (p.Ser913Phe) rs751273631 0.00001
NM_000388.4(CASR):c.121C>A (p.His41Asn)
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1465T>C (p.Tyr489His)
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.1711G>T (p.Gly571Trp)
NM_000388.4(CASR):c.1906A>T (p.Lys636Ter)
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.2113_2115del (p.Val705del)
NM_000388.4(CASR):c.2525T>C (p.Leu842Pro)
NM_000388.4(CASR):c.254C>T (p.Pro85Leu)
NM_000388.4(CASR):c.2912_2913delinsTT (p.Gly971Val)
NM_000388.4(CASR):c.511A>G (p.Ser171Gly)
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) rs397514498
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu) rs397514499
NM_006580.4:c.(?_598)_(900_?)del

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