List of variants in gene LOXHD1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
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.4714C>A (p.Arg1572=)	rs75949023	0.00656
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=)	rs181591912	0.00482
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)	rs61733519	0.00316
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)	rs367630521	0.00138
NM_001384474.1(LOXHD1):c.5400-3C>T	rs528236655	0.00029
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met)	rs770710016	0.00003
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=)	rs749402939	0.00001
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=)	rs368683058
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)	rs35088381

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