ClinVar Miner

List of variants studied for Camurati-Engelmann disease by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000660.6(TGFB1):c.241T>C (p.Tyr81His) rs111033611
NM_000660.6(TGFB1):c.652C>T (p.Arg218Cys) rs104894721
NM_000660.6(TGFB1):c.653G>A (p.Arg218His) rs104894720
NM_000660.6(TGFB1):c.667T>C (p.Cys223Arg) rs104894722
NM_000660.6(TGFB1):c.667T>G (p.Cys223Gly) rs104894722
NM_000660.6(TGFB1):c.673T>C (p.Cys225Arg) rs104894719

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