ClinVar Miner

List of variants reported as likely pathogenic for Saethre-Chotzen syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly) rs1554442015
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) rs1554441995
NM_000474.4(TWIST1):c.400_420dup (p.Ile134_Ser140dup)
NM_000474.4(TWIST1):c.408dup (p.Thr137fs) rs1554441993
NM_022970.3(FGFR2):c.1087+1292G>A rs1057519044

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