ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from GeneDx and "other" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
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_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.4(HBB):c.83C>T (p.Ala28Val) rs33954632 0.00001
NM_000518.4(HBB):c.203T>G (p.Val68Gly) rs33918343
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855

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