ClinVar Miner

List of variants in gene TGFB1 studied for Camurati-Engelmann disease

Included ClinVar conditions (1):
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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_000660.6(TGFB1):c.-1347T>C rs1800469
NM_000660.7(TGFB1):c.-171del rs281865481
NM_000660.7(TGFB1):c.241T>C (p.Tyr81His) rs111033611
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470
NM_000660.7(TGFB1):c.30_32GCT[6] (p.Leu11_Leu13dup) rs281865483
NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys) rs200482214
NM_000660.7(TGFB1):c.505G>A (p.Glu169Lys) rs281865484
NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg) rs1568478752
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.667T>A (p.Cys223Ser) rs104894722
NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg) rs104894722
NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly) rs104894722
NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg) rs104894719
NM_000660.7(TGFB1):c.74G>C (p.Arg25Pro) rs1800471
NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile) rs1800472

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