ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome by Rare Disease Group, Clinical Genetics,Karolinska Institutet

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Total variants: 6
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HGVS dbSNP
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His) rs1559369181
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) rs978909925
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp) rs1560228138
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.175-9G>A rs753317536
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665

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