ClinVar Miner

List of variants in gene CYP27B1 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000785.4(CYP27B1):c.*143G>A rs569065283 0.00087
NM_000785.4(CYP27B1):c.-22C>G rs146281435 0.00077
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_000785.4(CYP27B1):c.*635G>A rs533718329 0.00038
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) rs201629800 0.00033
NM_000785.4(CYP27B1):c.*446G>A rs763711308 0.00031
NM_000785.4(CYP27B1):c.386+10C>T rs376212738 0.00023
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) rs150648140 0.00023
NM_000785.4(CYP27B1):c.*345T>C rs141820034 0.00020
NM_000785.4(CYP27B1):c.*426T>C rs751250622 0.00019
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) rs368126466 0.00019
NM_000785.4(CYP27B1):c.348C>T (p.His116=) rs372771210 0.00014
NM_000785.4(CYP27B1):c.*329T>C rs895857646 0.00011
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 0.00011
NM_000785.4(CYP27B1):c.41G>A (p.Arg14His) rs372223837 0.00004
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys) rs535463729 0.00004
NM_000785.4(CYP27B1):c.801C>T (p.His267=) rs150334927 0.00004
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met) rs762682469 0.00003
NM_000785.4(CYP27B1):c.*764T>A rs997607806 0.00002
NM_000785.4(CYP27B1):c.*295G>A rs886049724 0.00001
NM_000785.4(CYP27B1):c.*426_*428dup rs886049722 0.00001
NM_000785.4(CYP27B1):c.*472C>A rs886049721 0.00001
NM_000785.4(CYP27B1):c.*76G>A rs147119803 0.00001
NM_000785.4(CYP27B1):c.117C>T (p.Asp39=) rs764141450 0.00001
NM_000785.4(CYP27B1):c.318G>A (p.Glu106=) rs1300048405 0.00001
NM_000785.4(CYP27B1):c.*215G>C rs557294448
NM_000785.4(CYP27B1):c.*301T>C rs886049723
NM_000785.4(CYP27B1):c.*722C>G rs886049720
NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) rs1200364118
NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val) rs886049725
NM_000785.4(CYP27B1):c.1388T>C (p.Leu463Pro) rs2140396100
NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu)
NM_000785.4(CYP27B1):c.437T>A (p.Leu146His) rs886049728
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) rs777612495
NM_000785.4(CYP27B1):c.704C>A (p.Thr235Asn)
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) rs1565811124
NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg)
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val)
NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys) rs886049727
NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu) rs886049726
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) rs762118198

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