ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000108.5(DLD):c.684+1G>T rs780025714
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_001123385.2(BCOR):c.2449del (p.Thr817fs) rs1602148660
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) rs143337739
NM_003611.3(OFD1):c.2193del (p.Arg732fs) rs1602904530
NM_003688.3(CASK):c.2327_2328del (p.Asp776fs) rs1569288603
NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr) rs1579936916
NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile) rs1321888585
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) rs750972972
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) rs1411237396
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_145331.3(MAP3K7):c.608-1G>A rs1180249151
NM_203475.3(PORCN):c.329+1G>A rs1602070594

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