ClinVar Miner

List of variants studied for X-linked Emery-Dreifuss muscular dystrophy by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.139_140dup (p.Leu48fs) rs2148128153
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000117.3(EMD):c.506_507del (p.Pro169fs) rs1422834817
NM_000117.3(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.3(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000117.3(EMD):c.615del (p.Ile206fs) rs2148128932
NM_000117.3:c.55_83del
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle) rs1603271580
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) rs122459149
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159699.2(FHL1):c.736+1G>A rs786200914
NM_001159699.2(FHL1):c.865dup (p.Cys289fs) rs1603273697
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu) rs122459148
NM_001159702.3(FHL1):c.838G>A (p.Val280Met) rs267606811

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