ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Stanford Center for Inherited Cardiovascular Disease, Stanford University and "pathogenic" 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: 21
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00053
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00031
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00006
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NC_012920.1(MT-TK):m.8342G>A rs118192103
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val) rs730880901
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459

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