ClinVar Miner

List of variants studied for X-linked disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) rs1246068842 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000273.3(GPR143):c.360+2T>C rs2146700764
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs) rs2147807115
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000381.4(MID1):c.757-1G>A rs1555895725
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs) rs1556016224
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs) rs2147080697
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs) rs1556880284
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001330360.2(POLA1):c.4313A>T (p.Lys1438Ile)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) rs1602300014
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs) rs1602136369
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter) rs2147340483
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001356.5(DDX3X):c.833dup (p.Leu278fs) rs1602131872
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro) rs1602132216
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val) rs1602041478
NM_002578.5(PAK3):c.1066G>T (p.Glu356Ter) rs2149325212
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe) rs2146868023
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter) rs2146961698
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004463.3(FGD1):c.1345C>T (p.Arg449Cys)
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) rs1325953089
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu) rs1555980523
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg) rs1602140936
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_015107.3(PHF8):c.2444-2A>G rs1603305030
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn) rs2124105757
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_033380.3(COL4A5):c.438+1G>A rs1603279819
NM_033380.3(COL4A5):c.645+3_645+36del
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer) rs1569394026

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