ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare and "likely benign" 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: 11
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004

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