ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 77 by Myriad Genetics, Inc.

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter) rs1037619437 0.00001
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter) rs1274241367
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter) rs2511931321
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter) rs2511926945
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter) rs2511888973
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter) rs2511882803
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter) rs945616168
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter) rs2511850178
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter) rs2511735560
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter) rs1458502601
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter) rs2511614912
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter) rs2511996859
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter) rs2511612853
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs) rs2511568423
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter) rs2034841317
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs) rs2511513874
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter) rs2511496811
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter) rs2511495207
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs) rs2511494549
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs) rs2511396663
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs) rs2511396500
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs) rs2511374242
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter) rs1317610566

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