ClinVar Miner

List of variants reported as pathogenic for X-linked disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000132.3(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.3(F8):c.1271+1G>A
NM_000132.3(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.3(F8):c.1569G>T (p.Leu523=) rs782733685
NM_000132.3(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.3(F8):c.1834C>T (p.Arg612Cys) rs137852428
NM_000132.3(F8):c.2150G>A (p.Arg717Gln)
NM_000132.3(F8):c.2167G>A (p.Ala723Thr) rs137852436
NM_000132.3(F8):c.302A>G (p.Asp101Gly)
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.3861_3867del (p.Phe1287fs)
NM_000132.3(F8):c.4870G>T (p.Glu1624Ter)
NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) rs28935203
NM_000132.3(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.3(F8):c.5301C>A (p.Tyr1767Ter)
NM_000132.3(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.3(F8):c.5914_5915del (p.Ile1972fs)
NM_000132.3(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.3(F8):c.5954G>A (p.Arg1985Gln) rs1490417405
NM_000132.3(F8):c.5999G>T (p.Gly2000Val)
NM_000132.3(F8):c.601_602insC (p.Gly201fs)
NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.3(F8):c.6622C>G (p.Gln2208Glu)
NM_000132.3(F8):c.6638C>T (p.Ser2213Phe)
NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) rs137852473
NM_000132.3(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303

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