ClinVar Miner

List of variants in gene WDR62 reported as pathogenic for Primary autosomal recessive microcephaly 2

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Total variants: 19
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HGVS dbSNP
NM_001083961.1(WDR62):c.1313G>A (p.Arg438His) rs387907082
NM_001083961.1(WDR62):c.1408C>T (p.Gln470Ter) rs267607177
NM_001083961.1(WDR62):c.1531G>A (p.Asp511Asn) rs387907083
NM_001083961.1(WDR62):c.1576G>A (p.Glu526Lys) rs147875659
NM_001083961.1(WDR62):c.193G>A (p.Val65Met) rs387907084
NM_001083961.1(WDR62):c.1941C>A (p.Cys647Ter) rs769688376
NM_001083961.1(WDR62):c.2084_2090dupAAAGCAT (p.Ser698Lysfs) rs587784546
NM_001083961.1(WDR62):c.2655C>G (p.Tyr885Ter) rs587784549
NM_001083961.1(WDR62):c.3012_3034dup (p.Pro1012Glnfs) rs1555723585
NM_001083961.1(WDR62):c.332+1G>A rs587784553
NM_001083961.1(WDR62):c.3514+1G>A rs199736219
NM_001083961.1(WDR62):c.363del (p.Asp122Metfs) rs587776901
NM_001083961.1(WDR62):c.3839_3855del (p.Gly1280Alafs) rs397704725
NM_001083961.1(WDR62):c.4205_4208del (p.Val1402Glyfs) rs397704721
NM_001083961.1(WDR62):c.671G>C (p.Trp224Ser) rs267607176
NM_001083961.2(WDR62):c.3936dup (p.Val1313Argfs) rs587776900
NM_001083961.2(WDR62):c.4241dup (p.Ser1415Glufs) rs587776899
NM_173636.4(WDR62):c.2086del (p.Ser696Alafs) rs863223322
NM_173636.4(WDR62):c.2746_2747del (p.Gln918Glyfs) rs764201220

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