ClinVar Miner

List of variants reported as likely benign for Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5

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Total variants: 17
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HGVS dbSNP
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508
NM_020779.4(WDR35):c.1195-1705C>T rs142103808
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688
NM_020779.4(WDR35):c.1860C>T (p.Thr620=) rs1572333836
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618
NM_020779.4(WDR35):c.2326C>T (p.Leu776=) rs772138388
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337
NM_020779.4(WDR35):c.2964+10C>A rs201207790
NM_020779.4(WDR35):c.3121+3G>A rs200042577
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) rs147325795
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808
NM_020779.4(WDR35):c.681T>C (p.Leu227=) rs143901897
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) rs139543775
NM_020779.4(WDR35):c.761T>C (p.Met254Thr) rs547986777
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097

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