ClinVar Miner

List of variants in gene CYP7B1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) rs145152682 0.00054
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) rs371522442 0.00022
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr) rs138977616 0.00016
NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln) rs201867790 0.00016
NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr) rs1031580133 0.00010
NM_004820.5(CYP7B1):c.1507A>G (p.Lys503Glu) rs886043568 0.00010
NM_004820.5(CYP7B1):c.850+5G>C rs202155727 0.00010
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) rs200328073 0.00009
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=) rs535511484 0.00008
NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys) rs375384257 0.00007
NM_004820.5(CYP7B1):c.629G>A (p.Ser210Asn) rs886044713 0.00006
NM_004820.5(CYP7B1):c.764C>A (p.Ala255Asp) rs768960597 0.00006
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) rs535728519 0.00005
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=) rs372135575 0.00005
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=) rs372800597 0.00004
NM_004820.5(CYP7B1):c.832G>A (p.Glu278Lys) rs751907012 0.00004
NM_004820.5(CYP7B1):c.928C>T (p.Arg310Trp) rs746439960 0.00004
NM_004820.5(CYP7B1):c.1171G>A (p.Asp391Asn) rs1458654195 0.00003
NM_004820.5(CYP7B1):c.188G>A (p.Arg63Gln) rs267601966 0.00003
NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu) rs368626966 0.00003
NM_004820.5(CYP7B1):c.695T>C (p.Ile232Thr) rs373829533 0.00003
NM_004820.5(CYP7B1):c.835G>A (p.Asp279Asn) rs766759427 0.00003
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=) rs1471365409 0.00002
NM_004820.5(CYP7B1):c.1400T>C (p.Leu467Ser) rs1032229386 0.00002
NM_004820.5(CYP7B1):c.1439T>C (p.Ile480Thr) rs756768505 0.00002
NM_004820.5(CYP7B1):c.147A>G (p.Ile49Met) rs774259036 0.00002
NM_004820.5(CYP7B1):c.478A>G (p.Asn160Asp) rs775784484 0.00002
NM_004820.5(CYP7B1):c.1256T>C (p.Ile419Thr) rs778082094 0.00001
NM_004820.5(CYP7B1):c.1376T>C (p.Ile459Thr) rs749312747 0.00001
NM_004820.5(CYP7B1):c.339A>G (p.Val113=) rs770923196 0.00001
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601 0.00001
NM_004820.5(CYP7B1):c.494T>A (p.Phe165Tyr) rs772606889 0.00001
NM_004820.5(CYP7B1):c.525G>C (p.Trp175Cys) rs794727501 0.00001
NM_004820.5(CYP7B1):c.945_947dup (p.Ala317dup) rs757326595 0.00001
NM_004820.5(CYP7B1):c.956G>T (p.Arg319Leu) rs767826482 0.00001
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=) rs746555297 0.00001
GRCh37/hg19 8q12.3(chr8:65662657-65742312)x3
NM_004820.5(CYP7B1):c.105G>C (p.Leu35Phe) rs1563432681
NM_004820.5(CYP7B1):c.1085T>C (p.Leu362Pro) rs1554583420
NM_004820.5(CYP7B1):c.1171G>C (p.Asp391His) rs1458654195
NM_004820.5(CYP7B1):c.1297A>G (p.Lys433Glu)
NM_004820.5(CYP7B1):c.1409T>C (p.Phe470Ser) rs1805123407
NM_004820.5(CYP7B1):c.1456C>A (p.Arg486Ser) rs116171274
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004820.5(CYP7B1):c.1461G>T (p.Leu487Phe) rs1213447459
NM_004820.5(CYP7B1):c.1505A>G (p.Tyr502Cys) rs1390285601
NM_004820.5(CYP7B1):c.204G>T (p.Arg68Ser) rs377119798
NM_004820.5(CYP7B1):c.425A>G (p.Tyr142Cys) rs1563364388
NM_004820.5(CYP7B1):c.500C>G (p.Pro167Arg) rs1173341823
NM_004820.5(CYP7B1):c.568G>A (p.Glu190Lys) rs1563364227
NM_004820.5(CYP7B1):c.59C>A (p.Pro20Gln)
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) rs537303950
NM_004820.5(CYP7B1):c.638G>C (p.Arg213Thr) rs1563364173
NM_004820.5(CYP7B1):c.73_99del (p.Ala25_Leu33del) rs1554542644
NM_004820.5(CYP7B1):c.743G>A (p.Cys248Tyr) rs763482203
NM_004820.5(CYP7B1):c.761T>C (p.Leu254Ser) rs1563364025
NM_004820.5(CYP7B1):c.786A>G (p.Glu262=) rs757183116
NM_004820.5(CYP7B1):c.835G>T (p.Asp279Tyr) rs766759427
NM_004820.5(CYP7B1):c.839T>C (p.Leu280Pro) rs1563363893
NM_004820.5(CYP7B1):c.869T>C (p.Leu290Pro)
NM_004820.5(CYP7B1):c.89T>G (p.Leu30Arg)
NM_004820.5(CYP7B1):c.902T>C (p.Met301Thr) rs370002054
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=) rs754533279
NM_004820.5(CYP7B1):c.953T>G (p.Val318Gly) rs752671180
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=) rs1045912447
NM_004820.5(CYP7B1):c.970C>G (p.Arg324Gly) rs773055558

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