ClinVar Miner

List of variants reported as benign for X-linked Emery-Dreifuss muscular dystrophy

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00375
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00298
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000117.3(EMD):c.432A>G (p.Glu144=) rs377125466 0.00014
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00013
NM_000117.3(EMD):c.400-14A>G rs781916367 0.00007
NM_000117.3(EMD):c.188-12C>T rs371016049 0.00006
NM_000117.3(EMD):c.746A>G (p.Glu249Gly) rs781947413 0.00004
NM_000117.3(EMD):c.400-20G>A rs782354948 0.00003
NM_000117.3(EMD):c.177T>C (p.Tyr59=) rs782552135 0.00002
NM_000117.3(EMD):c.449+11G>C rs782616042 0.00002
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00001
NM_000117.3(EMD):c.187+20G>A rs782622770
NM_000117.3(EMD):c.266-9dup rs1557182427
NM_000117.3(EMD):c.400-13CT[2] rs1427015192
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489

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