ClinVar Miner

List of variants reported as pathogenic for Camurati-Engelmann disease by GeneReviews

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP
NM_000660.6(TGFB1):c.241T>C (p.Tyr81His) rs111033611
NM_000660.6(TGFB1):c.30_38dup (p.Leu13_Pro14insLeuLeuLeu) rs281865483
NM_000660.6(TGFB1):c.466C>T (p.Arg156Cys) rs200482214
NM_000660.6(TGFB1):c.505G>A (p.Glu169Lys) rs281865484
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.664C>G (p.His222Asp) rs281865485
NM_000660.6(TGFB1):c.667T>A (p.Cys223Ser) rs104894722
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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