ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Mendelics

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00024
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) rs372628478 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu) rs730880610 0.00003
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile) rs531189495 0.00003
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys) rs397516086 0.00003
NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu) rs527305885 0.00002
NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp) rs569824900 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077 0.00001
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe) rs747686377 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys) rs551119259 0.00001
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val) rs727504358 0.00001
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn) rs141805127 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NC_012920.1:m.8851T>C rs199476136
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg) rs200788251
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp) rs1573923041
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) rs778783933
NM_001267550.2(TTN):c.72503T>G (p.Leu24168Trp) rs964700696
NM_002667.5(PLN):c.131T>C (p.Leu44Pro) rs794729210
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys) rs863225303
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_133379.5(TTN):c.13915G>T (p.Glu4639Ter) rs1430676547
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_178011.5(LRRTM3):c.311C>T (p.Ala104Val) rs1589435465

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