ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Stanford Center for Inherited Cardiovascular Disease, Stanford University and "uncertain significance" from any submitter

Minimum review status of the submission from Stanford Center for Inherited Cardiovascular Disease, Stanford University: Collection method of the submission from Stanford Center for Inherited Cardiovascular Disease, Stanford 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_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902

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