ClinVar Miner

List of variants reported as likely pathogenic for Melnick-Fraser syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) rs139314808 0.00010
NM_000503.6(EYA1):c.1199+2T>A rs2128854556
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
NM_000503.6(EYA1):c.1361-1G>A rs397517917
NM_000503.6(EYA1):c.1361-2A>G rs2128851194
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)
NM_000503.6(EYA1):c.1597+1G>T
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) rs1585717154
NM_000503.6(EYA1):c.419-2A>G
NM_000503.6(EYA1):c.557-1G>A
NM_000503.6(EYA1):c.826+1G>A
NM_001372066.1(TFAP2A):c.15G>A (p.Trp5Ter) rs2113228864
NM_005982.4(SIX1):c.500A>G (p.Gln167Arg)

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