ClinVar Miner

List of variants studied for Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5 by Invitae

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Total variants: 57
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HGVS dbSNP
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477
NM_020779.4(WDR35):c.10T>C (p.Tyr4His) rs772365561
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508
NM_020779.4(WDR35):c.1195-1682C>T rs143430766
NM_020779.4(WDR35):c.1195-1693A>G rs144673252
NM_020779.4(WDR35):c.1195-1699dup rs1327489348
NM_020779.4(WDR35):c.1195-1705C>T rs142103808
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688
NM_020779.4(WDR35):c.1255+1G>A rs371669862
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) rs767751856
NM_020779.4(WDR35):c.1471-7A>G rs376388391
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.1860C>T (p.Thr620=) rs1572333836
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp) rs0
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032
NM_020779.4(WDR35):c.2326C>T (p.Leu776=) rs772138388
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln) rs0
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250
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.2777A>G (p.Tyr926Cys) rs75602337
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) rs182928585
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) rs0
NM_020779.4(WDR35):c.2964+10C>A rs201207790
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) rs0
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs0
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266
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.3121+3G>A rs200042577
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) rs746128772
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) rs1558317742
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.436+4A>G rs0
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) rs1553322982
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.765C>T (p.Tyr255=) rs117255034
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) rs199840434

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