ClinVar Miner

List of variants in gene LOXHD1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
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.1894G>T (p.Gly632Cys) rs35088381
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys) rs202178613
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del) rs1488153218
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr) rs1318916998

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