ClinVar Miner

List of variants reported as likely pathogenic by Hehr Laboratory,Center for Human Genetics - University of Regensburg

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Total variants: 14
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NM_001083602.2(PTCH1):c.209dup (p.Ser71Lysfs)
NM_001456.3(FLNA):c.6748G>T (p.Glu2250Ter)
NM_004484.3(GPC3):c.974C>A (p.Ser325Ter)
NM_004737.6(LARGE1):c.1033_1034dup (p.Asn345Lysfs)
NM_006894.5(FMO3):c.370C>T (p.Gln124Ter)
NM_006894.5(FMO3):c.442G>A (p.Gly148Arg)
NM_007129.4(ZIC2):c.381_382del (p.Asp128Leufs)
NM_007217.3(PDCD10):c.575dup (p.Ser193Lysfs)
NM_022336.3(EDAR):c.1284T>A (p.Cys428Ter) rs886041005
NM_022336.3(EDAR):c.265C>T (p.Arg89Cys)
NM_024301.4(FKRP):c.402_403del (p.Ala135Terfs) rs886041004
NM_024596.4(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_031443.3(CCM2):c.584T>G (p.Leu195Arg)
NM_194456.1(KRIT1):c.896delG (p.Gly299Glufs)

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