ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_001167.4(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter) rs1085307073
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735

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