ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 14
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HGVS dbSNP
NM_033071.3(SYNE1):c.10091C>T (p.Pro3364Leu) rs748499952
NM_033071.3(SYNE1):c.10496G>A (p.Arg3499His) rs148522587
NM_033071.3(SYNE1):c.11384C>T (p.Thr3795Met) rs375577011
NM_033071.3(SYNE1):c.14689G>A (p.Ala4897Thr) rs745978878
NM_033071.3(SYNE1):c.15705-12A>G rs606231134
NM_033071.3(SYNE1):c.16082G>A (p.Arg5361Gln) rs200812806
NM_033071.3(SYNE1):c.19427G>A (p.Gly6476Asp) rs766241487
NM_033071.3(SYNE1):c.22280A>C (p.Glu7427Ala) rs774655615
NM_033071.3(SYNE1):c.26228C>T (p.Thr8743Met) rs567376316
NM_033071.3(SYNE1):c.3152G>A (p.Arg1051Gln) rs199888697
NM_033071.3(SYNE1):c.5251G>A (p.Glu1751Lys)
NM_033071.3(SYNE1):c.6570G>C (p.Glu2190Asp) rs144797998
NM_033071.3(SYNE1):c.9974G>A (p.Ser3325Asn) rs746689638
NM_182961.3(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691

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