ClinVar Miner

List of variants in gene LHFPL5 studied for Nonsyndromic Hearing Loss, Recessive

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_182548.4(LHFPL5):c.*417TA[3] rs71838634
NM_182548.4(LHFPL5):c.*423_*426del rs780263173
NM_182548.4(LHFPL5):c.*423_*428del rs763619245
NM_182548.4(LHFPL5):c.*425CA[15] rs67626900
NM_182548.4(LHFPL5):c.*425CA[17] rs67626900
NM_182548.4(LHFPL5):c.*425CA[19] rs67626900
NM_182548.4(LHFPL5):c.*461TACA[1] rs886061351
NM_182548.4(LHFPL5):c.*461_*462del rs141571775
NM_182548.4(LHFPL5):c.*461_*466del rs886061354
NM_182548.4(LHFPL5):c.*465_*466del rs1345815951
NM_182548.4(LHFPL5):c.*477TA[3] rs879430131
NM_182548.4(LHFPL5):c.*477TA[5] rs879430131
NM_182548.4(LHFPL5):c.*477_*483delinsCACACACAC rs886061358
NM_182548.4(LHFPL5):c.*480_*481insCA rs879873145
NM_182548.4(LHFPL5):c.*484AC[14] rs70975109
NM_182548.4(LHFPL5):c.*484AC[16] rs70975109
NM_182548.4(LHFPL5):c.*484AC[18] rs70975109
NM_182548.4(LHFPL5):c.*505_*506insTC rs886061361
NM_182548.4(LHFPL5):c.*505_*506insTCTC rs886061361
NM_182548.4(LHFPL5):c.*506_*512delinsTCTCTCTCTCT rs886061362
NM_182548.4(LHFPL5):c.*507_*508insTCTC rs879320336
NM_182548.4(LHFPL5):c.*508_*512delinsTCTCTCTCT rs886061364
NM_182548.4(LHFPL5):c.*508_*512delinsTCTCTCTCTCT rs886061364
NM_182548.4(LHFPL5):c.*509_*510insTC rs554538772
NM_182548.4(LHFPL5):c.*509_*510insTCTC rs554538772
NM_182548.4(LHFPL5):c.*510TC[4] rs554538772
NM_182548.4(LHFPL5):c.*510_*512delinsTCTCTCTCT rs886061366
NM_182548.4(LHFPL5):c.*510_*512delinsTCTCTCTCTCT rs886061366
NM_182548.4(LHFPL5):c.*511_*512insTC rs774401637
NM_182548.4(LHFPL5):c.*512TC[3] rs774401637
NM_182548.4(LHFPL5):c.*512delinsTCTCTCTCT rs886061368
NM_182548.4(LHFPL5):c.*512delinsTCTCTCTCTCT rs886061368
NM_182548.4(LHFPL5):c.*514TC[10] rs57581979
NM_182548.4(LHFPL5):c.*514TC[6] rs57581979
NM_182548.4(LHFPL5):c.*672dup rs147136847
NM_182548.4(LHFPL5):c.*904del rs796097780

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