ClinVar Miner

List of variants in gene MYH7 reported as likely benign for congenital myopathy

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_000257.4(MYH7):c.5656-9C>T rs781212482 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_000257.4(MYH7):c.5656-4G>A rs397516250 0.00011
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932 0.00009
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) rs199577321 0.00004
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) rs768393069 0.00004
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=) rs45523835 0.00004
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=) rs754295295 0.00004
NM_000257.4(MYH7):c.924C>T (p.Tyr308=) rs762065412 0.00004
NM_000257.4(MYH7):c.1608G>A (p.Glu536=) rs397516115 0.00003
NM_000257.4(MYH7):c.895+12C>T rs186276057 0.00003
NM_000257.4(MYH7):c.2868T>C (p.Asp956=) rs140718120 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000257.4(MYH7):c.1257+7C>A rs759480696 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr) rs771599539 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=) rs1361182615 0.00001
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=) rs148788346 0.00001
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=) rs730880727 0.00001
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=) rs746453011
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=) rs1272236852
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=) rs933857323
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=) rs921429381
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=) rs763934978
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) rs28933098

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