ClinVar Miner

List of variants reported as likely pathogenic by Dan Cohn Lab,University Of California Los Angeles

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Total variants: 10
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HGVS dbSNP
NM_001199397.2(NEK1):c.1992del (p.Val665fs) rs775849720
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His) rs1453462442
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900
NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) rs759648976
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710

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