ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Hadassah Hebrew University Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Hadassah Hebrew University Medical Center: Collection method of the submission from Hadassah Hebrew University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971

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