ClinVar Miner

List of variants reported as likely pathogenic for acrocephalosyndactyly by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly) rs1233220987
NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser) rs2115396651
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu) rs1788580776
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu) rs1554441987
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile) rs1788580077
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu) rs2115396574
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu) rs2115396572
NM_001271938.2(MEGF8):c.1784_1788+3del
NM_001271938.2(MEGF8):c.3761+2T>C
NM_016277.5(RAB23):c.156-1G>C rs373724159
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG rs2127998544
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.482-1_486del rs2127997697
NM_023110.3(FGFR1):c.1081+1G>A
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) rs1817052708
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)
NM_023110.3(FGFR1):c.1855-2A>G
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)
NM_023110.3(FGFR1):c.2049-1G>A
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) rs1260404537
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.449-6G>A
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)
NM_023110.3(FGFR1):c.622-2A>G rs2150866757
NM_023110.3(FGFR1):c.745+1G>T

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