ClinVar Miner

List of variants reported as pathogenic by Human Developmental Genetics Laboratory, Medical College of Wisconsin

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) rs80358194 0.00016
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_012186.3(FOXE3):c.291C>G (p.Ile97Met) rs762006562 0.00002
NM_000193.4(SHH):c.562+1G>A
NM_000325.6(PITX2):c.220C>T (p.Gln74Ter)
NM_000325.6(PITX2):c.293dup (p.His98fs)
NM_000325.6(PITX2):c.302_303del (p.Ser101fs)
NM_000325.6(PITX2):c.344G>A (p.Arg115His) rs104893862
NM_000325.6(PITX2):c.384G>A (p.Trp128Ter)
NM_000325.6(PITX2):c.411+1G>A rs1728998905
NM_000325.6(PITX2):c.412-11A>G rs1198152064
NM_000325.6(PITX2):c.412-1G>A
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.417G>T (p.Trp139Cys)
NM_000325.6(PITX2):c.428G>C (p.Arg143Pro)
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) rs104893859
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) rs104893859
NM_000325.6(PITX2):c.448_449del (p.Arg150fs) rs2110432091
NM_000325.6(PITX2):c.503_506del (p.Asn168fs)
NM_000325.6(PITX2):c.515del (p.Gln172fs)
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) rs951710742
NM_000325.6(PITX2):c.525del (p.Asp175fs)
NM_000325.6(PITX2):c.557G>A (p.Trp186Ter)
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) rs104893860
NM_000325.6(PITX2):c.663del (p.Asn222fs)
NM_000325.6(PITX2):c.790del (p.Val264fs)
NM_000325.6(PITX2):c.791_792dup (p.Pro265fs)
NM_000325.6(PITX2):c.867_889del (p.Ser290fs)
NM_001453.3(FOXC1):c.1141dup (p.Ala381fs)
NM_001453.3(FOXC1):c.1193_1196dup (p.Met400fs)
NM_001453.3(FOXC1):c.1430del (p.Gln477fs)
NM_001453.3(FOXC1):c.1508del (p.Asn503fs)
NM_001453.3(FOXC1):c.176dup (p.Met60fs)
NM_001453.3(FOXC1):c.241T>C (p.Tyr81His)
NM_001453.3(FOXC1):c.246C>G (p.Ser82Arg) rs376405759
NM_001453.3(FOXC1):c.257T>G (p.Leu86Arg)
NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser) rs104893951
NM_001453.3(FOXC1):c.354del (p.Asn118fs)
NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)
NM_001453.3(FOXC1):c.380G>A (p.Arg127His) rs1085307884
NM_001453.3(FOXC1):c.502del (p.Leu168fs)
NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp) rs1581373890
NM_001453.3(FOXC1):c.65dup (p.Gln23fs)
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.816_817delinsA (p.Ser272fs)
NM_001453.3(FOXC1):c.821del (p.Pro274fs)
NM_001453.3(FOXC1):c.965_977dup (p.Leu328fs)
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp) rs1565753611
NM_004491.5(ARHGAP35):c.1849C>T (p.Arg617Ter)
NM_004491.5(ARHGAP35):c.4251del (p.Thr1418fs)
NM_004491.5(ARHGAP35):c.4444del (p.Gln1482fs)
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)
NM_012186.3(FOXE3):c.148_170dup (p.Gly58fs) rs2124041750
NM_012186.3(FOXE3):c.21_24del (p.Met7fs) rs1464817302
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) rs774505755
NM_012186.3(FOXE3):c.543del (p.Pro182fs) rs2124043339
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer) rs1476879051
NM_012186.3(FOXE3):c.958T>C (p.Ter320Arg) rs2124045186
NM_012186.3(FOXE3):c.959G>C (p.Ter320Ser) rs387906793
NM_014712.3(SETD1A):c.526C>T (p.Arg176Ter)
NM_170606.3(KMT2C):c.103del (p.Arg35fs)

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