ClinVar Miner

List of variants reported as likely benign for autosomal recessive nonsyndromic hearing loss 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_012188.5(FOXI1):c.231C>G (p.Pro77=) rs550209761 0.00051
NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr) rs145129881 0.00021
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=) rs151068619 0.00008
NM_002241.5(KCNJ10):c.39T>A (p.Thr13=) rs776805483 0.00006
NM_000441.2(SLC26A4):c.990C>T (p.Ser330=) rs770874403 0.00004
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=) rs372774976 0.00004
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787 0.00002
NM_000441.2(SLC26A4):c.768G>A (p.Thr256=) rs552050976 0.00001
NM_002241.5(KCNJ10):c.366C>T (p.Ser122=) rs1471561944

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