ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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_021120.4(DLG3):c.251C>T (p.Pro84Leu) rs374006597 0.00003
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg) rs773169987 0.00002
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096 0.00001
NM_001039591.3(USP9X):c.2969A>G (p.His990Arg)
NM_001368397.1(FRMPD4):c.476A>G (p.Lys159Arg) rs2147106313
NM_031407.7(HUWE1):c.2210C>T (p.Ala737Val) rs2148818275
NM_033380.3(COL4A5):c.1603C>T (p.Pro535Ser) rs2147809975
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu) rs2065868609

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