ClinVar Miner

List of variants in gene combination AMACR, C1QTNF3-AMACR reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_014324.6(AMACR):c.247+20G>A rs9282595 0.09385
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser) rs9282594 0.02606
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_014324.6(AMACR):c.-22C>G rs35448266 0.00123
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_014324.6(AMACR):c.182G>C (p.Arg61Pro) rs765322702 0.00026
NM_014324.6(AMACR):c.566C>A (p.Ala189Glu) rs367814719 0.00006
NM_014324.6(AMACR):c.204T>A (p.Arg68=) rs1057472198 0.00005
NM_014324.6(AMACR):c.770A>G (p.Asn257Ser) rs781463041 0.00004
NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile) rs368693738 0.00003
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile) rs1057520170 0.00001
NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg) rs773780297
NM_014324.6(AMACR):c.289C>T (p.Arg97Trp) rs757072374
NM_014324.6(AMACR):c.563C>T (p.Thr188Ile) rs749650326
NM_014324.6(AMACR):c.713C>T (p.Pro238Leu) rs778295213
NM_014324.6(AMACR):c.950C>A (p.Thr317Asn) rs2112032576
NM_014324.6(AMACR):c.983C>T (p.Ala328Val)

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