ClinVar Miner

Variants in gene PCARE with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00651
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) rs72861054 0.00315
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) rs188815175 0.00296
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259 0.00135
NM_001029883.3(PCARE):c.99G>A (p.Gln33=) rs146455733 0.00106
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) rs140790266 0.00099
NM_001029883.3(PCARE):c.1545A>G (p.Gln515=) rs200427237 0.00093
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001029883.3(PCARE):c.2190C>T (p.Ser730=) rs369820535 0.00009
NM_001029883.3(PCARE):c.3673_3675dupAGC

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