ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from CeGaT Center for Human Genetics Tuebingen and "benign" from any submitter

Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686

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