List of variants studied for Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro)	rs1555189307
NM_003482.4(KMT2D):c.10582C>G (p.Leu3528Val)	rs2120454333
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)	rs2120453584
NM_003482.4(KMT2D):c.10625T>C (p.Leu3542Pro)	rs2120453489
NM_003482.4(KMT2D):c.10658G>T (p.Gly3553Val)	rs2120452825
NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln)	rs2120449499

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