ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Genetics Laboratory, Region Ostergotland and "likely pathogenic" from any submitter

Minimum review status of the submission from Clinical Genetics Laboratory, Region Ostergotland: Collection method of the submission from Clinical Genetics Laboratory, Region Ostergotland:
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_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.4(LDLR):c.313+1G>A

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