ClinVar Miner

List of variants reported as pathogenic for Congenital central hypoventilation

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Total variants: 16
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HGVS dbSNP
ASCL1, 15-BP DEL, NT111
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840
NM_003924.3(PHOX2B):c.220C>T (p.Gln74Ter) rs1297909281
NM_003924.3(PHOX2B):c.618dup (p.Ser207fs) rs587776626
NM_003924.3(PHOX2B):c.729_749dup (p.Ala254_Ala260dup) rs772448418
NM_003924.3(PHOX2B):c.753_767dup (p.Ala256_Ala260dup) rs779557320
NM_003924.3(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup) rs775006915
NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr) rs267606667
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NP_003915.2:p.Ala260(5_9)
PHOX2B, 37-BP DEL, NT722

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