ClinVar Miner

List of variants reported for Neuroblastoma, susceptibility to, 2; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_003924.4(PHOX2B):c.242-5_242-2dup rs1553898065
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup) rs760638643
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup) rs17879189
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157

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