ClinVar Miner

List of variants in gene MYOZ2 reported as uncertain significance for cardiomyopathy

Included ClinVar conditions (522):
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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
NM_016599.5(MYOZ2):c.146A>G (p.His49Arg) rs148908208 0.00024
NM_016599.5(MYOZ2):c.*192_*193insATA rs536614678 0.00019
NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile) rs554299359 0.00013
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu) rs200791464 0.00008
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala) rs762234986 0.00006
NM_016599.5(MYOZ2):c.403C>A (p.Pro135Thr) rs144720577 0.00004
NM_016599.5(MYOZ2):c.523G>A (p.Gly175Arg) rs147532351 0.00004
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) rs200428820 0.00004
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val) rs746027670 0.00003
NM_016599.5(MYOZ2):c.376+9T>A rs536009604 0.00003
NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys) rs752275226 0.00003
NM_016599.5(MYOZ2):c.200A>G (p.Lys67Arg) rs1215550950 0.00002
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val) rs772659939 0.00002
NM_016599.5(MYOZ2):c.376+2T>C rs112675369 0.00002
NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln) rs727503332 0.00002
NM_016599.5(MYOZ2):c.114C>G (p.Ile38Met) rs1741433554 0.00001
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu) rs376901669 0.00001
NM_016599.5(MYOZ2):c.158G>A (p.Arg53His) rs751671131 0.00001
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys) rs755233280 0.00001
NM_016599.5(MYOZ2):c.182G>A (p.Arg61His) rs748259386 0.00001
NM_016599.5(MYOZ2):c.220C>T (p.Gln74Ter) rs863223715 0.00001
NM_016599.5(MYOZ2):c.227A>G (p.Gln76Arg) rs761283496 0.00001
NM_016599.5(MYOZ2):c.247-3C>T rs774202003 0.00001
NM_016599.5(MYOZ2):c.275T>C (p.Val92Ala) rs764229797 0.00001
NM_016599.5(MYOZ2):c.292G>C (p.Glu98Gln) rs779446731 0.00001
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter) rs374655743 0.00001
NM_016599.5(MYOZ2):c.389C>T (p.Pro130Leu) rs890598036 0.00001
NM_016599.5(MYOZ2):c.392T>A (p.Leu131Gln) rs781466292 0.00001
NM_016599.5(MYOZ2):c.419A>T (p.Asn140Ile) rs745351307 0.00001
NM_016599.5(MYOZ2):c.497T>C (p.Leu166Ser) rs1227160156 0.00001
NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val) rs775850657 0.00001
NM_016599.5(MYOZ2):c.659T>C (p.Met220Thr) rs1578374324 0.00001
NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu) rs201971682 0.00001
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg) rs796785947 0.00001
NM_016599.5(MYOZ2):c.749C>T (p.Thr250Ile) rs774131437 0.00001
NM_016599.5(MYOZ2):c.75T>C (p.Asn25=) rs201476980 0.00001
NM_016599.5(MYOZ2):c.773T>A (p.Val258Glu) rs760620614 0.00001
NC_000004.11:g.(?_120057661)_(120107375_?)dup
NC_000004.11:g.(?_120057667)_(120108944_?)dup
NC_000004.11:g.(?_120057671)_(120057766_?)dup
NC_000004.11:g.(?_120057671)_(120107365_?)dup
NC_000004.11:g.(?_120057681)_(120057776_?)dup
NC_000004.11:g.(?_120057681)_(120107355_?)dup
NC_000004.11:g.(?_120072007)_(120079326_?)del
NC_000004.11:g.(?_120095665)_(120107238_?)del
NM_016599.5(MYOZ2):c.*1262del rs533440962
NM_016599.5(MYOZ2):c.*1262dup rs533440962
NM_016599.5(MYOZ2):c.*4G>T rs1561137822
NM_016599.5(MYOZ2):c.106G>C (p.Val36Leu) rs763449906
NM_016599.5(MYOZ2):c.136G>T (p.Glu46Ter) rs2149221447
NM_016599.5(MYOZ2):c.156C>A (p.Asn52Lys) rs1578729969
NM_016599.5(MYOZ2):c.177G>C (p.Lys59Asn) rs2149221471
NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu) rs2149221474
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser) rs397517289
NM_016599.5(MYOZ2):c.180G>A (p.Met60Ile) rs2149221476
NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly) rs755233280
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu) rs368392953
NM_016599.5(MYOZ2):c.242T>C (p.Ile81Thr) rs1741439343
NM_016599.5(MYOZ2):c.251G>C (p.Ser84Thr)
NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met)
NM_016599.5(MYOZ2):c.259A>G (p.Met87Val) rs1741621672
NM_016599.5(MYOZ2):c.268G>A (p.Gly90Arg) rs1035375546
NM_016599.5(MYOZ2):c.27G>C (p.Lys9Asn)
NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser)
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) rs138061447
NM_016599.5(MYOZ2):c.302C>T (p.Ser101Leu)
NM_016599.5(MYOZ2):c.327del (p.Asn110fs) rs2149223404
NM_016599.5(MYOZ2):c.336A>G (p.Pro112=) rs774333721
NM_016599.5(MYOZ2):c.348C>G (p.Ser116Arg)
NM_016599.5(MYOZ2):c.358C>T (p.Pro120Ser) rs1741625308
NM_016599.5(MYOZ2):c.361G>A (p.Asp121Asn)
NM_016599.5(MYOZ2):c.36A>C (p.Lys12Asn) rs775592981
NM_016599.5(MYOZ2):c.373C>G (p.Pro125Ala)
NM_016599.5(MYOZ2):c.373C>T (p.Pro125Ser) rs2149223427
NM_016599.5(MYOZ2):c.376+1G>T rs1741625973
NM_016599.5(MYOZ2):c.376+6C>T rs2149223432
NM_016599.5(MYOZ2):c.439T>C (p.Tyr147His) rs141181373
NM_016599.5(MYOZ2):c.442T>C (p.Tyr148His)
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His) rs200077093
NM_016599.5(MYOZ2):c.456G>A (p.Trp152Ter)
NM_016599.5(MYOZ2):c.477T>A (p.Asp159Glu)
NM_016599.5(MYOZ2):c.47C>T (p.Thr16Ile) rs1408647865
NM_016599.5(MYOZ2):c.499_501delinsAACTTTTCAAG (p.Tyr167fs) rs1741776648
NM_016599.5(MYOZ2):c.508C>T (p.Leu170Phe) rs1578738559
NM_016599.5(MYOZ2):c.538C>T (p.Pro180Ser)
NM_016599.5(MYOZ2):c.544T>C (p.Tyr182His)
NM_016599.5(MYOZ2):c.547A>G (p.Arg183Gly) rs1741778219
NM_016599.5(MYOZ2):c.549G>C (p.Arg183Ser)
NM_016599.5(MYOZ2):c.55dup (p.Met19fs)
NM_016599.5(MYOZ2):c.560+1G>T rs760946395
NM_016599.5(MYOZ2):c.562G>A (p.Val188Ile) rs2149230757
NM_016599.5(MYOZ2):c.577G>A (p.Gly193Arg)
NM_016599.5(MYOZ2):c.581G>A (p.Gly194Asp) rs1578374252
NM_016599.5(MYOZ2):c.591del (p.Ala198fs) rs1742285153
NM_016599.5(MYOZ2):c.654G>T (p.Arg218Ser) rs1218433680
NM_016599.5(MYOZ2):c.682G>A (p.Gly228Ser)
NM_016599.5(MYOZ2):c.684C>T (p.Gly228=) rs1257308572
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131
NM_016599.5(MYOZ2):c.706C>A (p.Pro236Thr)
NM_016599.5(MYOZ2):c.706C>T (p.Pro236Ser)
NM_016599.5(MYOZ2):c.718A>G (p.Ile240Val) rs1064796685
NM_016599.5(MYOZ2):c.724G>A (p.Glu242Lys) rs1742288958
NM_016599.5(MYOZ2):c.760G>A (p.Asp254Asn) rs1742290113
NM_016599.5(MYOZ2):c.786A>C (p.Glu262Asp) rs863223714
NM_016599.5(MYOZ2):c.85G>A (p.Gly29Ser)
Single allele

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