ClinVar Miner

List of variants reported as likely benign for Autosomal recessive nonsyndromic hearing loss 77 by Counsyl

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01099
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00334
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00026
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860 0.00024
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=) rs761010290 0.00003
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144 0.00003
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=) rs876657498 0.00001
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762

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