ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare and "uncertain significance" from any submitter

Minimum review status of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare: Collection method of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs) rs772429581

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