ClinVar Miner

List of variants in gene MYH7 reported as likely pathogenic for Laing early-onset distal myopathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761
NM_000257.4(MYH7):c.5560-2A>C rs1566521710
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264

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