ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from King Laboratory, University of Washington and "pathogenic" from any submitter

Minimum review status of the submission from King Laboratory, University of Washington: Collection method of the submission from King Laboratory, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val) rs759274321 0.00004
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His) rs754786373 0.00003
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) rs1060499810

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