ClinVar Miner

Variants with conflicting interpretations "benign" from Ambry Genetics and "likely pathogenic" from any submitter

Minimum review status of the submission from Ambry Genetics: Collection method of the submission from Ambry Genetics:
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Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003

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