ClinVar Miner

List of variants in gene ACVRL1 reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1048+2T>G rs1555153172
NM_000020.2(ACVRL1):c.1115C>T (p.Thr372Ile)
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1285G>T (p.Val429Leu) rs1131691286
NM_000020.2(ACVRL1):c.1321G>A (p.Val441Met)
NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.2(ACVRL1):c.1402_1403insTGCGGGAG (p.Trp472Glyfs) rs1057519168
NM_000020.2(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000020.2(ACVRL1):c.302delT (p.Leu101Argfs) rs1064794791
NM_000020.2(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946
NM_000020.2(ACVRL1):c.677T>A (p.Val226Glu)
NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile) rs138048445

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