ClinVar Miner

List of variants reported as likely benign for Congenital central hypoventilation by Illumina Clinical Services Laboratory,Illumina

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Total variants: 8
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HGVS dbSNP
NM_003924.3(PHOX2B):c.*18G>A rs776498322
NM_003924.3(PHOX2B):c.*19C>A rs770841700
NM_003924.3(PHOX2B):c.*24_*32delGCGGCGGCG rs763380864
NM_003924.3(PHOX2B):c.*549dup rs201654270
NM_003924.3(PHOX2B):c.*60G>A rs558416040
NM_003924.3(PHOX2B):c.639C>G (p.Gly213=) rs17879258
NM_003924.3(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779

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