ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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_000390.4(CHM):c.189+5A>G rs757833413
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val) rs936722686
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_016120.4(RLIM):c.1364C>A (p.Ser455Tyr) rs1478259309
NM_020717.3(SHROOM4):c.1996G>A (p.Glu666Lys) rs782246021
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_033380.3(COL4A5):c.2245-3A>G rs1603293513
NM_033380.3(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu) rs992950790
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_033380.3(COL4A5):c.3455-8T>G rs1569505503
NM_033380.3(COL4A5):c.3808+17G>A rs1603312557
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr) rs764933317
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr) rs749580257
NM_033380.3(COL4A5):c.4706+4A>C rs1569508999
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu) rs1556463567

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