List of variants reported as likely pathogenic for Haddad syndrome

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.241+1G>A	rs2153113036
NM_003924.4(PHOX2B):c.242-1G>A	rs2552097044
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)	rs1560466246
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg)	rs2153112821
NM_003924.4(PHOX2B):c.691_698del (p.Gly231fs)	rs2153112779
NM_020975.6(RET):c.1947G>A (p.Ser649=)	rs377767412

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