ClinVar Miner

List of variants in gene PC reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001040716.2(PC):c.1-35661G>T rs1555040359
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1225_1227del (p.Asn409del) rs1555023879
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup) rs1555015012
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del) rs1555014903
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) rs751225998
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) rs1555014068
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142

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