ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "likely benign" from Ambry Genetics

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 90
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_003673.4(TCAP):c.353C>T (p.Ala118Val) rs143233087 0.00092
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808 0.00056
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00045
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651 0.00039
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser) rs191263181 0.00026
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 0.00022
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00020
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_004006.3(DMD):c.1761A>G (p.Thr587=) rs370103963 0.00016
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu) rs200814534 0.00014
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser) rs374887049 0.00009
NM_001037.5(SCN1B):c.449-3C>A rs370937269 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623 0.00006
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln) rs764437671 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00004
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=) rs371178429 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) rs151164490 0.00004
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys) rs752764827 0.00003
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=) rs1247179970 0.00003
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp) rs367926247 0.00002
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met) rs764263517 0.00002
NM_001079802.2(FKTN):c.588C>T (p.Asp196=) rs1222153269 0.00001
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=) rs1280272876 0.00001
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955 0.00001
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=) rs1350503435 0.00001
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)
NM_001267550.2(TTN):c.47874T>C (p.Phe15958=)
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
NM_024301.5(FKRP):c.291C>T (p.Pro97=) rs1215872713
NM_133378.4(TTN):c.37385_37387delAAG rs759525338

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