ClinVar Miner

List of variants studied for X-linked disease by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000054.6(AVPR2):c.886T>C (p.Trp296Arg) rs886041110
NM_000091.4(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000307.5(POU3F4):c.249dup (p.Gly84fs) rs1569280138
NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_001110792.2(MECP2):c.988dup (p.Glu330fs) rs1603308287
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) rs1602635656
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001193416.3(DDX3X):c.1171-1G>C rs1602134459
NM_001193416.3(DDX3X):c.1804C>T (p.Arg602Ter) rs886041705
NM_003611.3(OFD1):c.363del (p.Ser122fs) rs1555901146
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004463.3(FGD1):c.679del (p.Ser227fs)
NM_006950.3(SYN1):c.314del (p.Gly105fs) rs1603078587
NM_012280.4(FTSJ1):c.742C>T (p.Arg248Cys) rs1135401942
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs) rs1603290131
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs)
NM_033380.3(COL4A5):c.311del (p.Pro104fs) rs1603278993
NM_033380.3(COL4A5):c.4316-1G>T rs281874734
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs) rs1569509234

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