ClinVar Miner

List of variants reported as uncertain significance for Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5

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Total variants: 16
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HGVS dbSNP
NM_020779.4(WDR35):c.10T>C (p.Tyr4His) rs772365561
NM_020779.4(WDR35):c.1195-1682C>T rs143430766
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp) rs0
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln) rs0
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile) rs201443916
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala) rs370706293
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val) rs0
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) rs0
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) rs0
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804
NM_020779.4(WDR35):c.308G>T (p.Gly103Val) rs0
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) rs1558317742
NM_020779.4(WDR35):c.436+4A>G rs0
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) rs1553322982
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077

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