ClinVar Miner

List of variants in gene combination ANO7, HDLBP reported as uncertain significance for not specified

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_005336.6(HDLBP):c.2243G>T (p.Gly748Val) rs199968516 0.00023
NM_005336.6(HDLBP):c.3730A>G (p.Met1244Val) rs139297681 0.00016
NM_005336.6(HDLBP):c.2856C>G (p.Ile952Met) rs143341723 0.00014
NM_005336.6(HDLBP):c.3070G>A (p.Ala1024Thr) rs148676564 0.00007
NM_005336.6(HDLBP):c.2607C>G (p.Asp869Glu) rs144556840 0.00005
NM_005336.6(HDLBP):c.2779A>C (p.Asn927His) rs758317347 0.00005
NM_005336.6(HDLBP):c.2347G>A (p.Val783Ile) rs761469892 0.00003
NM_005336.6(HDLBP):c.2529G>C (p.Gln843His) rs756541532 0.00003
NM_005336.6(HDLBP):c.2893G>A (p.Glu965Lys) rs557925333 0.00003
NM_005336.6(HDLBP):c.3412G>A (p.Val1138Ile) rs753509915 0.00003
NM_005336.6(HDLBP):c.2330T>C (p.Ile777Thr) rs765886386 0.00002
NM_005336.6(HDLBP):c.2383C>G (p.Gln795Glu) rs745840916 0.00001
NM_005336.6(HDLBP):c.2867G>A (p.Arg956Gln) rs145714274 0.00001
NM_005336.6(HDLBP):c.3236G>A (p.Arg1079Gln) rs748965030 0.00001
NM_005336.6(HDLBP):c.3436C>T (p.Arg1146Cys) rs774308878 0.00001
NM_005336.6(HDLBP):c.2188G>T (p.Val730Phe)
NM_005336.6(HDLBP):c.2197C>T (p.Arg733Cys)
NM_005336.6(HDLBP):c.2294C>T (p.Ala765Val)
NM_005336.6(HDLBP):c.2360A>G (p.Gln787Arg) rs2532954222
NM_005336.6(HDLBP):c.2374G>T (p.Ala792Ser)
NM_005336.6(HDLBP):c.2378T>C (p.Leu793Ser)
NM_005336.6(HDLBP):c.2471G>A (p.Arg824Gln)
NM_005336.6(HDLBP):c.2548A>G (p.Lys850Glu)
NM_005336.6(HDLBP):c.2561A>G (p.Asp854Gly) rs766199413
NM_005336.6(HDLBP):c.2618A>T (p.Gln873Leu)
NM_005336.6(HDLBP):c.2619G>C (p.Gln873His) rs755839436
NM_005336.6(HDLBP):c.2642C>T (p.Pro881Leu)
NM_005336.6(HDLBP):c.2761G>C (p.Glu921Gln)
NM_005336.6(HDLBP):c.2785G>A (p.Asp929Asn) rs2532767649
NM_005336.6(HDLBP):c.2806G>C (p.Glu936Gln) rs2070516910
NM_005336.6(HDLBP):c.2866C>T (p.Arg956Trp)
NM_005336.6(HDLBP):c.2944G>T (p.Asp982Tyr) rs2532688296
NM_005336.6(HDLBP):c.3217G>A (p.Ala1073Thr) rs2149342588
NM_005336.6(HDLBP):c.3235C>T (p.Arg1079Trp)
NM_005336.6(HDLBP):c.3277G>A (p.Asp1093Asn)
NM_005336.6(HDLBP):c.3342G>C (p.Arg1114Ser)
NM_005336.6(HDLBP):c.3503C>A (p.Ala1168Asp)
NM_005336.6(HDLBP):c.3637C>T (p.Pro1213Ser)
NM_005336.6(HDLBP):c.3656C>G (p.Ala1219Gly)
NM_005336.6(HDLBP):c.3686G>T (p.Arg1229Leu)

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