ClinVar Miner

List of variants studied for Saethre-Chotzen syndrome by OMIM

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) rs104894057
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) rs121909187
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) rs121909188
NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro) rs121909189
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_022970.3(FGFR2):c.804_809del (p.Val269_Val270del) rs879253718
TWIST1, 21-BP DUP

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