List of variants studied for Camurati-Engelmann disease by GeneReviews

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000660.7(TGFB1):c.241T>C (p.Tyr81His)	rs111033611
NM_000660.7(TGFB1):c.30GCT[6] (p.Leu11_Leu13dup)	rs281865483
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)	rs104894721
NM_000660.7(TGFB1):c.653G>A (p.Arg218His)	rs104894720
NM_000660.7(TGFB1):c.664C>G (p.His222Asp)	rs281865485
NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)	rs104894719

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