ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Mendelics

Included ClinVar conditions (275):
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Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283 0.00046
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser) rs756672167 0.00006
NM_000132.4(F8):c.5024A>G (p.Gln1675Arg) rs782280813 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) rs1057114018 0.00002
NM_000054.7(AVPR2):c.784G>A (p.Val262Met) rs1557100878 0.00001
NM_000132.4(F8):c.5012G>A (p.Arg1671His) rs782166477 0.00001
NM_004840.3(ARHGEF6):c.1943A>G (p.Lys648Arg) rs375084147 0.00001
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1]) rs782292545
NM_000054.7(AVPR2):c.744_755del (p.Arg249_Arg252del) rs782681085
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) rs1603234322
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000489.6(ATRX):c.5124G>T (p.Leu1708Phe) rs1602978896
NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile) rs1602264353
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) rs999749949
NM_001399.5(EDA):c.961G>A (p.Glu321Lys) rs397516682
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr) rs1603222490
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp) rs910374883
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg) rs1029761293
NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn) rs1344933833
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=) rs1603326524
NM_153252.5(BRWD3):c.1690C>T (p.Leu564Phe) rs1602352162

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