List of variants studied for Hirschsprung disease by Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg)	rs55744193	0.00504
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_002253.4(KDR):c.2066C>T (p.Thr689Met)	rs34038364	0.00307
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)	rs45484298	0.00111
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)	rs142274954	0.00083
NM_007199.3(IRAK3):c.1461del (p.Asn487fs)	rs776951445	0.00071
NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg)	rs143391519	0.00039
NM_001620.3(AHNAK):c.6539A>G (p.Lys2180Arg)	rs200438956	0.00025
NM_014943.5(ZHX2):c.1682G>A (p.Arg561Gln)	rs138450443	0.00022
NM_001384900.1(SEMA3D):c.592G>A (p.Glu198Lys)	rs549337695	0.00011
NM_001102654.2(NTF3):c.265G>A (p.Gly89Arg)	rs540320780	0.00010
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)	rs775489067	0.00002
NM_003248.6(THBS4):c.1885C>T (p.Gln629Ter)	rs745310807	0.00001
NM_001367949.2(FAT3):c.6916G>A (p.Val2306Ile)	rs863223333
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)	rs863223334
NM_005264.8(GFRA1):c.779T>C (p.Leu260Pro)	rs863223332
NM_014361.4(CNTN5):c.3016G>A (p.Val1006Ile)	rs200028794

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