List of variants studied for Haddad syndrome by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.341G>A (p.Arg114His)	rs76397662	0.00029
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	rs768420488	0.00001
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)	rs8192466
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)	rs73810366
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)	rs1733941453
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)	rs1733899167
NM_003924.4(PHOX2B):c.618dup (p.Ser207fs)	rs587776626
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)	rs1733878065
NM_004316.4(ASCL1):c.111_134del (p.Ala40_Ala47del)	rs756714075
NM_004316.4(ASCL1):c.114_128del (p.Ala43_Ala47del)	rs533680685
NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr)	rs267606667
NM_207034.3(EDN3):c.565dup (p.Thr189fs)	rs11570344
NP_003915.2:p.Ala260[(5_9)]

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