List of variants reported as uncertain significance for Cranioectodermal dysplasia by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.321A>G (p.Gln107=)	rs138793724	0.00299
NM_025132.4(WDR19):c.2364-15_2364-14del	rs555557314	0.00033
NM_025132.4(WDR19):c.1134+13T>G	rs374615138	0.00013
NM_025132.4(WDR19):c.1249+9A>G	rs201377206	0.00011
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser)	rs545916111	0.00006
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)	rs549077153	0.00003
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys)	rs773080594	0.00002
NM_020779.4(WDR35):c.*2288C>T	rs886055398	0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)	rs772867899	0.00001
NM_020779.4(WDR35):c.*2029GTCT[1]	rs566446459
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile)	rs748998292
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly)	rs886055402
NM_025132.3(WDR19):c.-59dup	rs558898928
NM_025132.4(WDR19):c.293_296dup	rs374474677

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