ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001159699.2(FHL1):c.737-8C>T rs2076705 0.53498
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_001159699.2(FHL1):c.498C>T (p.Cys166=) rs145445372 0.00107
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_001159699.2(FHL1):c.786C>T (p.His262=) rs141231353 0.00074
NM_001159699.2(FHL1):c.114G>A (p.Lys38=) rs140149764 0.00067
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp) rs150911744 0.00030
NM_001159699.2(FHL1):c.737-9T>C rs914754937 0.00022
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
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.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 0.00005
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00004
NM_001159699.2(FHL1):c.380-16T>C rs772665517 0.00004
NM_001159699.2(FHL1):c.737-5C>A rs771803774 0.00004
NM_000117.3(EMD):c.400-20G>A rs782354948 0.00003
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000117.3(EMD):c.177T>C (p.Tyr59=)
NM_000117.3(EMD):c.187+20G>A
NM_000117.3(EMD):c.266-9dup
NM_000117.3(EMD):c.400-13CT[2] rs1427015192
NM_000117.3(EMD):c.449+11G>C
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001159699.2(FHL1):c.737-3dup
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001159699.2(FHL1):c.737-9dup rs374867802

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