ClinVar Miner

List of variants reported as likely benign for autosomal recessive nonsyndromic hearing loss 77 by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001384474.1(LOXHD1):c.5649G>A (p.Glu1883=) rs180858375 0.00160
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=) rs147582935 0.00051
NM_001384474.1(LOXHD1):c.2352C>T (p.Pro784=) rs111493023 0.00041
NM_001384474.1(LOXHD1):c.5691G>C (p.Leu1897=) rs527820569 0.00041
NM_001384474.1(LOXHD1):c.4632G>A (p.Lys1544=) rs924829697 0.00032
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001384474.1(LOXHD1):c.6220T>C (p.Leu2074=) rs185604776 0.00018
NM_001384474.1(LOXHD1):c.5658C>T (p.Ser1886=) rs571456548 0.00017
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=) rs559560065 0.00016
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=) rs779507390 0.00015
NM_001384474.1(LOXHD1):c.6777G>A (p.Lys2259=) rs764655234 0.00015
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001384474.1(LOXHD1):c.3144C>A (p.Gly1048=) rs141514234 0.00010
NM_001384474.1(LOXHD1):c.6666G>A (p.Glu2222=) rs1030153414 0.00009
NM_001384474.1(LOXHD1):c.834C>T (p.Asp278=) rs112969644 0.00009
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=) rs753440039 0.00006
NM_001384474.1(LOXHD1):c.3219A>G (p.Thr1073=) rs748419853 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001384474.1(LOXHD1):c.1950C>T (p.Asn650=) rs371762941 0.00004
NM_001384474.1(LOXHD1):c.5913T>C (p.Asp1971=) rs773969803 0.00004
NM_001384474.1(LOXHD1):c.5967C>T (p.Leu1989=) rs574598048 0.00004
NM_001384474.1(LOXHD1):c.6594C>T (p.Phe2198=) rs981453947 0.00004
NM_001384474.1(LOXHD1):c.5628C>T (p.Ile1876=) rs149705118 0.00003
NM_001384474.1(LOXHD1):c.4635G>A (p.Val1545=) rs531191015 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.78C>T (p.Tyr26=) rs1032456776 0.00002
NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=) rs997622169 0.00001
NM_001384474.1(LOXHD1):c.2766G>A (p.Lys922=) rs552637512
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437

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