ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Hereditary Research Laboratory, Bethlehem University and "likely pathogenic" from any submitter

Minimum review status of the submission from Hereditary Research Laboratory, Bethlehem University: Collection method of the submission from Hereditary Research Laboratory, Bethlehem University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val) rs759274321 0.00004
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_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
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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