ClinVar Miner

List of variants reported as benign for Cranioectodermal dysplasia 1 by Illumina Laboratory Services, Illumina

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_052985.3(IFT122):c.-206A>G rs3138334 0.02635
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_052985.3(IFT122):c.-210C>A rs148987764 0.00690
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095

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