ClinVar Miner

List of variants reported as uncertain significance for nonsyndromic genetic hearing loss by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln) rs782426472 0.00009
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5169-6C>A
NM_001142966.3(GREB1L):c.683C>T (p.Ser228Phe)
NM_001146079.2(CLDN14):c.664del (p.Ala222fs) rs761918152
NM_182548.4(LHFPL5):c.139C>A (p.Pro47Thr)
NM_194248.3(OTOF):c.4655C>T (p.Pro1552Leu) rs2148027757

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