ClinVar Miner

List of variants in gene MYF6 reported as likely benign for congenital myopathy

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002469.3(MYF6):c.544A>C (p.Thr182Pro) rs141278987 0.00283
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) rs28928909 0.00121
NM_002469.3(MYF6):c.559T>A (p.Trp187Arg) rs143677057 0.00111
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp) rs138296448 0.00077
NM_002469.3(MYF6):c.528T>C (p.Gly176=) rs145205388 0.00060
NM_002469.3(MYF6):c.347T>C (p.Leu116Pro) rs200372502 0.00043
NM_002469.3(MYF6):c.79G>A (p.Val27Met) rs147184101 0.00029
NM_002469.3(MYF6):c.172G>A (p.Gly58Arg) rs578239628 0.00005
NM_002469.3(MYF6):c.355C>A (p.Arg119=) rs766453673 0.00002
NM_002469.3(MYF6):c.369C>T (p.Asn123=) rs777383223 0.00001
NM_002469.3(MYF6):c.294C>T (p.Ala98=) rs753157281
NM_002469.3(MYF6):c.478C>T (p.Leu160=) rs368477055

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