ClinVar Miner

List of variants reported as likely pathogenic by Hereditary Hearing Loss Research Unit,University of Madras

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Total variants: 7
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NM_000291.4(PGK1):c.89A>C (p.Lys30Thr) rs1569550773
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) rs751973078
NM_018076.5(ARMC4):c.2765G>A (p.Gly922Glu) rs1564439559
NM_018429.3(BDP1):c.1714G>T (p.Val572Phe) rs1187285510
NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly) rs540498342
NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) rs1348505504
NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys) rs377581367

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