ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser) rs142375403 0.00129
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His) rs146785878 0.00013
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) rs200500110 0.00003
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757 0.00001
NM_004463.3(FGD1):c.598C>T (p.Pro200Ser) rs773941303 0.00001
NM_001039591.3(USP9X):c.1877G>A (p.Ser626Asn) rs1569170734
NM_001039591.3(USP9X):c.4469C>T (p.Pro1490Leu) rs1555929612
NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu) rs1555926370

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