ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000033.4(ABCD1):c.1743_1745CGT[1] (p.Val583del) rs1557054859
NM_000531.6(OTC):c.254T>C (p.Ile85Thr) rs878853245
NM_000531.6(OTC):c.72_77+18del rs863225061
NM_003688.3(CASK):c.2589+1G>T rs1555972599
NM_004493.2(HSD17B10):c.592C>A (p.Pro198Thr) rs886037927
NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) rs886044765
NM_032335.3(PHF6):c.113del (p.Lys38fs) rs1057519064

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