ClinVar Miner

List of variants in gene WDFY3 studied for Microcephaly 18, primary, autosomal dominant

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_014991.6(WDFY3):c.336A>G (p.Leu112=) rs2046402 0.42154
NM_014991.6(WDFY3):c.10486C>T (p.Arg3496Cys) rs149067356 0.00033
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys) rs775542349 0.00004
NM_014991.6(WDFY3):c.5404C>T (p.Arg1802Trp) rs138292353 0.00003
NM_014991.6(WDFY3):c.9304G>A (p.Val3102Met) rs374371115 0.00002
NM_014991.6(WDFY3):c.7684T>G (p.Phe2562Val) rs1560592333 0.00001
NM_014991.6(WDFY3):c.9754C>T (p.Pro3252Ser) rs912833658 0.00001
NM_014991.6(WDFY3):c.10055C>G (p.Ser3352Ter)
NM_014991.6(WDFY3):c.10114A>C (p.Ile3372Leu)
NM_014991.6(WDFY3):c.1150T>G (p.Phe384Val) rs1754056228
NM_014991.6(WDFY3):c.1153G>A (p.Ala385Thr)
NM_014991.6(WDFY3):c.115C>A (p.Pro39Thr)
NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro) rs1753844425
NM_014991.6(WDFY3):c.1792C>T (p.Leu598Phe)
NM_014991.6(WDFY3):c.2282C>T (p.Thr761Met)
NM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs) rs1750979319
NM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter)
NM_014991.6(WDFY3):c.290C>G (p.Ser97Ter)
NM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val)
NM_014991.6(WDFY3):c.3473T>G (p.Leu1158Arg) rs2149575345
NM_014991.6(WDFY3):c.3487+8dup rs139234296
NM_014991.6(WDFY3):c.4063-1G>T rs2149494307
NM_014991.6(WDFY3):c.4518+7A>G
NM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr) rs1745325272
NM_014991.6(WDFY3):c.4739G>A (p.Ser1580Asn)
NM_014991.6(WDFY3):c.4828A>C (p.Asn1610His) rs2149434106
NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs) rs2149390162
NM_014991.6(WDFY3):c.5242C>T (p.Arg1748Ter) rs1322001449
NM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu)
NM_014991.6(WDFY3):c.6208G>T (p.Asp2070Tyr)
NM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly) rs2149221110
NM_014991.6(WDFY3):c.6370A>G (p.Thr2124Ala) rs2149220704
NM_014991.6(WDFY3):c.6398C>T (p.Pro2133Leu) rs1738169642
NM_014991.6(WDFY3):c.6619C>G (p.Leu2207Val) rs1737616997
NM_014991.6(WDFY3):c.6820T>C (p.Ser2274Pro) rs1737414565
NM_014991.6(WDFY3):c.7095C>A (p.His2365Gln)
NM_014991.6(WDFY3):c.7189G>T (p.Val2397Leu)
NM_014991.6(WDFY3):c.7297_7298insC (p.Val2433fs)
NM_014991.6(WDFY3):c.7304dup (p.Tyr2435Ter)
NM_014991.6(WDFY3):c.7324A>C (p.Met2442Leu)
NM_014991.6(WDFY3):c.749A>G (p.Asn250Ser) rs1353660689
NM_014991.6(WDFY3):c.7909C>T (p.Arg2637Trp) rs1553924800
NM_014991.6(WDFY3):c.7910G>A (p.Arg2637Gln) rs1733677406
NM_014991.6(WDFY3):c.8033T>G (p.Val2678Gly)
NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter) rs750764507
NM_014991.6(WDFY3):c.8396A>G (p.Tyr2799Cys)
NM_014991.6(WDFY3):c.8474T>G (p.Phe2825Cys) rs2148936410
NM_014991.6(WDFY3):c.8693del (p.Leu2898fs)
NM_014991.6(WDFY3):c.8894C>A (p.Pro2965His)
NM_014991.6(WDFY3):c.8901+1G>A
NM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe) rs1397754824
NM_014991.6(WDFY3):c.9302T>G (p.Val3101Gly)
NM_014991.6(WDFY3):c.9326C>T (p.Thr3109Ile)
NM_014991.6(WDFY3):c.9347C>A (p.Thr3116Asn) rs1315045089
NM_014991.6(WDFY3):c.9449C>A (p.Thr3150Asn) rs2148828032
NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter) rs866536893
NM_014991.6(WDFY3):c.957-2A>G rs1754957238
NM_014991.6(WDFY3):c.9662del (p.Ser3221fs)
NM_014991.6(WDFY3):c.9823+1507C>T rs2148768666

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