ClinVar Miner

List of variants in gene LOXHD1 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00013
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys) rs202178613
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del) rs1488153218
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr) rs1318916998

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