ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München and "pathogenic" from any submitter

Minimum review status of the submission from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München: Collection method of the submission from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123

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