ClinVar Miner

List of variants in gene PC reported as likely pathogenic for not provided

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Total variants: 9
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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.3514G>A (p.Asp1172Asn) rs568925019 0.00003
NM_001040716.2(PC):c.1043del (p.Gln348fs) rs1064796030 0.00001
NM_001040716.2(PC):c.1267G>A (p.Asp423Asn) rs1057524862 0.00001
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.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142

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