ClinVar Miner

List of variants studied for Focal dermal hypoplasia by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter) rs2519481642
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter) rs2519467926
NM_203475.3(PORCN):c.964C>G (p.Leu322Val) rs782200118

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