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 (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000843.4(GRM6):c.1537G>A (p.Val513Met) rs201396068 0.00012
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter) rs1085307073

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