ClinVar Miner

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

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) rs1359359899
NM_000132.3(F8):c.1010-9T>A rs1603435287
NM_000132.3(F8):c.1231G>A (p.Asp411Asn) rs1324147584
NM_000132.3(F8):c.1439T>C (p.Leu480Pro) rs1256548419
NM_000132.3(F8):c.1666G>A (p.Val556Ile) rs372867215
NM_000132.3(F8):c.2243A>G (p.Tyr748Cys) rs1160871723
NM_000132.3(F8):c.5950G>C (p.Val1984Leu) rs782504844
NM_000132.3(F8):c.6346T>C (p.Tyr2116His) rs781870586
NM_000132.3(F8):c.748A>G (p.Met250Val) rs781943293
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) rs1187663822
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990
NM_001111125.3(IQSEC2):c.826C>A (p.Pro276Thr) rs1556865113
NM_004550.4(NDUFS2):c.1138C>G (p.His380Asp) rs144411579
NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln) rs781793405

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