ClinVar Miner

List of variants reported as pathogenic for acrocephalosyndactyly by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000006.12:g.(?_57186982)_(57222324_?)del
NC_000007.14:g.(?_19116693)_(19117341_?)del
NC_000008.11:g.(?_38424489)_(38461126_?)del
NC_000019.10:g.(?_42370701)_(42370831_?)del
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) rs1554442082
NM_000474.4(TWIST1):c.197del (p.Pro66fs) rs1585617611
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) rs104894065
NM_000474.4(TWIST1):c.277dup (p.Ser93fs) rs1585617402
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) rs1563160116
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys) rs1233220987
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) rs121909188
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) rs1554441995
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) rs1554441991
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup) rs1554441989
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter) rs1563159980
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs) rs1585617865
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) rs1563160337
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171
NM_016277.5(RAB23):c.5del (p.Leu2fs) rs1593223920
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042
NM_023110.2(FGFR1):c.1430+1G>A rs1554552774
NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.1512del (p.Lys504fs)

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