ClinVar Miner

List of variants reported as benign for autosomal dominant nonsyndromic hearing loss 5 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) rs876305 0.56409
NM_001127453.2(GSDME):c.405-15G>A rs754553 0.18061
NM_001127453.2(GSDME):c.489G>A (p.Thr163=) rs754555 0.17320
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=) rs17149912 0.16349
NM_001127453.2(GSDME):c.*481G>C rs12979 0.12626
NM_001127453.2(GSDME):c.619G>A (p.Val207Met) rs12540919 0.07873
NM_001127453.2(GSDME):c.*527C>T rs6957782 0.07350
NM_001127453.2(GSDME):c.*273C>T rs17149888 0.07118
NM_001127453.2(GSDME):c.863-6T>C rs55735863 0.03926
NM_001127453.2(GSDME):c.*30C>T rs17274530 0.03910
NM_001127453.2(GSDME):c.*87A>G rs10266655 0.02589
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705 0.01715
NM_001127453.2(GSDME):c.*448T>C rs144061292 0.01358
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247 0.00179
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) rs144358787 0.00076
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001127453.2(GSDME):c.612C>T (p.Asp204=) rs551846110 0.00001
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr) rs61731036
NM_001127453.2(GSDME):c.1348C>T (p.Arg450Cys) rs151328414
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) rs754554

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