ClinVar Miner

List of variants studied for acrocephalosyndactyly by OMIM

Included ClinVar conditions (13):
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Total variants: 39
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HGVS dbSNP
FGFR2, ALU INS
MEGF8, GLY199ARG
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) rs121918495
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del) rs879253718
NM_000141.5(FGFR2):c.818_820del (p.Asp273del) rs121918503
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) rs121918510
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) rs104894057
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) rs121909187
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) rs121909188
NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro) rs121909189
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428
NM_016277.5(RAB23):c.408dup (p.Glu137Ter) rs1438138090
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) rs1593223800
NM_022970.3(FGFR2):c.1087+1216_1087+1225delinsACC rs1589828632
NM_022970.3(FGFR2):c.1087+1218G>A rs879253719
NM_022970.3(FGFR2):c.1087+1366A>G rs879253721
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
TWIST1, 21-BP DUP

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