ClinVar Miner

List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606
NM_170707.4(LMNA):c.1381-5G>A rs730880133
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) rs267607578
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062

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