ClinVar Miner

List of variants in gene CDH15 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004933.3(CDH15):c.1572G>T (p.Arg524Ser) rs749139709 0.00019
NM_004933.3(CDH15):c.1275C>G (p.Asp425Glu) rs143389865 0.00010
NM_004933.3(CDH15):c.550A>T (p.Thr184Ser) rs778068673 0.00004
NM_004933.3(CDH15):c.1004A>G (p.His335Arg) rs756368653 0.00001
NM_004933.3(CDH15):c.1232+2T>A rs758178918 0.00001
NM_004933.3(CDH15):c.*3C>T
NM_004933.3(CDH15):c.1039C>T (p.Pro347Ser) rs1399460063
NM_004933.3(CDH15):c.1040C>T (p.Pro347Leu)
NM_004933.3(CDH15):c.127G>T (p.Val43Leu) rs138610425
NM_004933.3(CDH15):c.1531C>G (p.Pro511Ala) rs1419856684
NM_004933.3(CDH15):c.1871T>A (p.Val624Glu)
NM_004933.3(CDH15):c.2170A>G (p.Ser724Gly)
NM_004933.3(CDH15):c.541G>A (p.Asp181Asn) rs1016544957
NM_004933.3(CDH15):c.563C>A (p.Ala188Glu)
NM_004933.3(CDH15):c.598G>C (p.Glu200Gln)
NM_004933.3(CDH15):c.962T>G (p.Val321Gly)

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