ClinVar Miner

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.

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000138.4(FBN1):c.1547G>A (p.Arg516Gln) rs775489067
NM_000264.4(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_001008781.2(FAT3):c.6916G>A (p.Val2306Ile) rs863223333
NM_001102654.1(NTF3):c.265G>A (p.Gly89Arg) rs540320780
NM_001306212.1(THBS4):c.1612C>T (p.Gln538Ter) rs745310807
NM_001620.2(AHNAK):c.6539A>G (p.Lys2180Arg) rs200438956
NM_001620.2(AHNAK):c.7562C>G (p.Pro2521Arg) rs143391519
NM_002253.3(KDR):c.2066C>T (p.Thr689Met) rs34038364
NM_002658.4(PLAU):c.172G>A (p.Gly58Arg) rs55744193
NM_004380.2(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_005264.5(GFRA1):c.779T>C (p.Leu260Pro) rs863223332
NM_007199.2(IRAK3):c.1461delC (p.Asn487Lysfs) rs776951445
NM_014361.3(CNTN5):c.3016G>A (p.Val1006Ile) rs200028794
NM_014943.4(ZHX2):c.1682G>A (p.Arg561Gln) rs138450443
NM_152754.2(SEMA3D):c.592G>A (p.Glu198Lys) rs549337695

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