ClinVar Miner

List of variants reported as uncertain significance for Laing early-onset distal myopathy by Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000257.3(MYH7):c.1630A>G (p.Thr544Ala) rs397516119
NM_000257.3(MYH7):c.3610G>C (p.Gly1204Arg) rs397516188
NM_000257.3(MYH7):c.3830G>A (p.Arg1277Gln) rs397516195
NM_000257.3(MYH7):c.3982G>A (p.Ala1328Thr) rs372727092
NM_000257.3(MYH7):c.5774G>A (p.Arg1925His) rs752553589
NM_000257.3(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262

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