ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu) rs1581373871 0.00001
NM_012186.3(FOXE3):c.371C>T (p.Thr124Met) rs773472430 0.00001
NM_000325.6(PITX2):c.296T>C (p.Phe99Ser)
NM_000325.6(PITX2):c.406G>T (p.Val136Phe)
NM_000325.6(PITX2):c.418T>C (p.Phe140Leu)
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) rs1057519485
NM_001291415.2(KDM6A):c.4243C>T (p.Arg1415Ter)
NM_001453.3(FOXC1):c.263C>T (p.Thr88Ile) rs727503932
NM_001453.3(FOXC1):c.269C>T (p.Ala90Val)
NM_001453.3(FOXC1):c.407T>C (p.Phe136Ser)
NM_001453.3(FOXC1):c.470A>T (p.Asp157Val)
NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer) rs398123715
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
NM_012186.3(FOXE3):c.286G>A (p.Ala96Thr) rs2124042297
NM_012186.3(FOXE3):c.359G>C (p.Arg120Pro) rs772347736
NM_014023.4(WDR37):c.659A>G (p.Asp220Gly) rs2131646026
NM_014023.4(WDR37):c.778G>A (p.Asp260Asn) rs1311664509

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