ClinVar Miner

List of variants reported as pathogenic for polydactyly-syndactyly-triphalangism by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000168.6(GLI3):c.2128C>T (p.Gln710Ter)
NM_000168.6(GLI3):c.999_1002dup (p.Gly335fs)
NM_000523.4(HOXD13):c.673del (p.Ser225fs)
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter) rs2109029867
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3613dup (p.Ile1205fs)
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
NM_002968.3(SALL1):c.952_953del (p.Pro318fs)
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583

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