ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp) rs781335672 0.00002
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_001378457.1(DMXL2):c.2763A>T (p.Leu921Phe)
NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr) rs778580507

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