ClinVar Miner

List of variants in gene WBP2 studied for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012478.4(WBP2):c.305-5T>C rs2290771 0.46485
NM_012478.4(WBP2):c.60-42C>T rs936391 0.29127
NM_012478.4(WBP2):c.168+36T>C rs936393 0.21034
NM_012478.4(WBP2):c.478G>A (p.Ala160Thr) rs202022024 0.00003
NM_012478.4(WBP2):c.466C>G (p.Pro156Ala) rs773715692 0.00002
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg) rs770968991
NM_012478.4(WBP2):c.487A>C (p.Met163Leu) rs1555604710
NM_012478.4(WBP2):c.671C>T (p.Ala224Val) rs1555604549

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