ClinVar Miner

List of variants studied for myofibrillar myopathy 6 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
NM_004281.4(BAG3):c.1503C>A (p.Val501=) rs147277075 0.00089
NM_004281.4(BAG3):c.*402T>C rs541591765 0.00068
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004281.4(BAG3):c.*399G>T rs774188346 0.00019
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp) rs200479768 0.00011
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu) rs556000090 0.00009
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu) rs199700646 0.00009
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn) rs140251789 0.00006
NM_004281.4(BAG3):c.1362C>T (p.Ile454=) rs372417286 0.00006
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys) rs747583925 0.00006
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) rs746956979 0.00006
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser) rs201487919 0.00006
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys) rs747820097 0.00005
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu) rs368866313 0.00005
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp) rs397514506 0.00004
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln) rs774137001 0.00004
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn) rs754387872 0.00004
NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser) rs1031608025 0.00003
NM_004281.4(BAG3):c.485C>T (p.Pro162Leu) rs373446989 0.00003
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln) rs140904592 0.00003
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser) rs376832654 0.00003
NM_004281.4(BAG3):c.-155C>G rs963964101 0.00002
NM_004281.4(BAG3):c.1239C>T (p.Ala413=) rs201137108 0.00002
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys) rs778496291 0.00002
NM_004281.4(BAG3):c.1558C>T (p.Pro520Ser) rs760699965 0.00002
NM_004281.4(BAG3):c.386C>T (p.Ala129Val) rs876657747 0.00002
NM_004281.4(BAG3):c.897C>T (p.Val299=) rs763915884 0.00002
NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg) rs786205347 0.00001
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly) rs775153939 0.00001
NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln) rs150156178 0.00001
NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly) rs369690617 0.00001
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys) rs566015884 0.00001
NM_004281.4(BAG3):c.322G>A (p.Val108Met) rs730880053 0.00001
NM_004281.4(BAG3):c.337G>A (p.Val113Ile) rs781093275 0.00001
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser) rs774241343 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) rs199991063 0.00001
NM_004281.4(BAG3):c.416G>A (p.Arg139Gln) rs769913236 0.00001
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr) rs770678896 0.00001
NM_004281.4(BAG3):c.557C>T (p.Ala186Val) rs766766600 0.00001
NM_004281.4(BAG3):c.578G>A (p.Arg193Lys) rs752722473 0.00001
NM_004281.4(BAG3):c.646G>A (p.Val216Ile) rs148282376 0.00001
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser) rs747846089 0.00001
NM_004281.4(BAG3):c.692C>T (p.Thr231Met) rs747454279 0.00001
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu) rs751261054 0.00001
NM_004281.4(BAG3):c.909+4C>T rs376351857 0.00001
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser) rs762376423 0.00001
NM_004281.4(BAG3):c.-319C>T rs987450541
NM_004281.4(BAG3):c.1077del (p.Glu360fs)
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del) rs761727804
NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs) rs794728981
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly) rs1847245034
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu) rs139125612
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg) rs1846845477
NM_004281.4(BAG3):c.1626del (p.Glu543fs)
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.289C>T (p.Pro97Ser) rs747274078
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter) rs2134063421
NM_004281.4(BAG3):c.451_452inv (p.Cys151His)
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg) rs727502895
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del) rs763170019
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys) rs201487919
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter) rs1343231277
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.784G>A (p.Ala262Thr) rs876661343
NM_004281.4(BAG3):c.821C>A (p.Ser274Ter) rs143919208
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137

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