ClinVar Miner

List of variants in gene MYT1L studied for Inborn genetic diseases

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001303052.2(MYT1L):c.2461G>A (p.Val821Ile) rs201961477 0.00007
NM_001303052.2(MYT1L):c.1189G>T (p.Ala397Ser) rs755926766 0.00004
NM_001303052.2(MYT1L):c.1325C>T (p.Thr442Met) rs754747899 0.00002
NM_001303052.2(MYT1L):c.1673G>A (p.Arg558His) rs746083137 0.00001
NM_001303052.2(MYT1L):c.1072C>T (p.Arg358Cys) rs192615880
NM_001303052.2(MYT1L):c.1112C>T (p.Thr371Met)
NM_001303052.2(MYT1L):c.1175G>A (p.Arg392Gln)
NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg) rs1330054460
NM_001303052.2(MYT1L):c.1786A>C (p.Lys596Gln)
NM_001303052.2(MYT1L):c.2112C>G (p.Ser704Arg)
NM_001303052.2(MYT1L):c.21G>C (p.Glu7Asp)
NM_001303052.2(MYT1L):c.224G>A (p.Arg75Gln)
NM_001303052.2(MYT1L):c.2283+5G>A
NM_001303052.2(MYT1L):c.2290G>C (p.Asp764His)
NM_001303052.2(MYT1L):c.2414A>C (p.Asn805Thr)
NM_001303052.2(MYT1L):c.2470A>T (p.Thr824Ser)
NM_001303052.2(MYT1L):c.2624G>A (p.Ser875Asn)
NM_001303052.2(MYT1L):c.2670_2671del (p.Ser891fs)
NM_001303052.2(MYT1L):c.26G>A (p.Arg9Gln)
NM_001303052.2(MYT1L):c.2740G>C (p.Gly914Arg)
NM_001303052.2(MYT1L):c.287C>T (p.Thr96Ile)
NM_001303052.2(MYT1L):c.316G>A (p.Glu106Lys)
NM_001303052.2(MYT1L):c.3173-5T>G
NM_001303052.2(MYT1L):c.3427A>G (p.Ile1143Val)
NM_001303052.2(MYT1L):c.468GGA[8] (p.Glu167dup) rs148009982
NM_001303052.2(MYT1L):c.575A>G (p.Asp192Gly)
NM_001303052.2(MYT1L):c.7G>A (p.Val3Met)
NM_001303052.2(MYT1L):c.869C>T (p.Ser290Leu)

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