ClinVar Miner

List of variants in gene LHFPL5 reported as uncertain significance for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_182548.4(LHFPL5):c.*510A>T rs139510846 0.05556
NM_182548.4(LHFPL5):c.*477T>C rs868411000 0.04547
NM_182548.4(LHFPL5):c.*506A>T rs370002177 0.02744
NM_182548.4(LHFPL5):c.*479T>C rs367730858 0.02419
NM_182548.4(LHFPL5):c.*199A>G rs9470110 0.02252
NM_182548.4(LHFPL5):c.*459C>T rs886061352 0.01890
NM_182548.4(LHFPL5):c.*449C>T rs57339676 0.01785
NM_182548.4(LHFPL5):c.*514T>A rs575842617 0.01191
NM_182548.4(LHFPL5):c.*425C>T rs13204950 0.00866
NM_182548.4(LHFPL5):c.*465T>C rs199534465 0.00688
NM_182548.4(LHFPL5):c.-63C>G rs41270084 0.00582
NM_182548.4(LHFPL5):c.-132A>G rs143126474 0.00538
NM_182548.4(LHFPL5):c.*803A>G rs73404033 0.00535
NM_182548.4(LHFPL5):c.*778C>T rs146335201 0.00432
NM_182548.4(LHFPL5):c.*461T>C rs868561014 0.00343
NM_182548.4(LHFPL5):c.*779G>A rs139570565 0.00333
NM_182548.4(LHFPL5):c.*169G>C rs181922784 0.00299
NM_182548.4(LHFPL5):c.*231G>C rs189788458 0.00298
NM_182548.4(LHFPL5):c.*433C>T rs866719068 0.00238
NM_182548.4(LHFPL5):c.*1035C>T rs186453856 0.00217
NM_182548.4(LHFPL5):c.*427C>T rs879669569 0.00209
NM_182548.4(LHFPL5):c.*419T>C rs146860559 0.00170
NM_182548.4(LHFPL5):c.*827G>T rs545462913 0.00116
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) rs149941106 0.00095
NM_182548.4(LHFPL5):c.*241G>A rs115413675 0.00094
NM_182548.4(LHFPL5):c.-93C>T rs540528658 0.00088
NM_182548.4(LHFPL5):c.*421T>C rs147190285 0.00068
NM_182548.4(LHFPL5):c.*417T>C rs149067362 0.00062
NM_182548.4(LHFPL5):c.*429C>T rs1283607110 0.00047
NM_182548.4(LHFPL5):c.*431C>T rs866312688 0.00017
NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr) rs202178128 0.00016
NM_182548.4(LHFPL5):c.*475C>T rs13205046 0.00012
NM_182548.4(LHFPL5):c.*386A>T rs1056962421 0.00011
NM_182548.4(LHFPL5):c.*385C>T rs567038240 0.00010
NM_182548.4(LHFPL5):c.*487C>T rs945975159 0.00007
NM_182548.4(LHFPL5):c.*1010G>A rs527915117 0.00006
NM_182548.4(LHFPL5):c.*516T>A rs1412945427 0.00003
NM_182548.4(LHFPL5):c.-161A>G rs886061342 0.00003
NM_182548.4(LHFPL5):c.-30G>C rs375993440 0.00003
NM_182548.4(LHFPL5):c.206T>C (p.Val69Ala) rs886061344 0.00003
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) rs760970028 0.00003
NM_182548.4(LHFPL5):c.527G>A (p.Arg176His) rs774466373 0.00002
NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly) rs767421846 0.00002
NM_182548.4(LHFPL5):c.*489C>T rs1768914804 0.00001
NM_182548.4(LHFPL5):c.*501C>G rs1581977965 0.00001
NM_182548.4(LHFPL5):c.*609G>A rs1039461994 0.00001
NM_182548.4(LHFPL5):c.140C>A (p.Pro47His) rs886061343 0.00001
NM_182548.4(LHFPL5):c.366C>T (p.Asn122=) rs147162459 0.00001
NM_182548.4(LHFPL5):c.506C>T (p.Thr169Met) rs372084864 0.00001
NM_182548.4(LHFPL5):c.*170A>G rs886061346
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.*443C>T rs1163079029
NM_182548.4(LHFPL5):c.*457C>T rs866657668
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.*508A>T rs371866936
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.*790A>G rs886061372
NM_182548.4(LHFPL5):c.-128C>T rs146758343
NM_182548.4(LHFPL5):c.139C>A (p.Pro47Thr)
NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)
NM_182548.4(LHFPL5):c.372C>T (p.Ala124=) rs886061345
NM_182548.4(LHFPL5):c.411G>T (p.Ala137=) rs140326236
NM_182548.4(LHFPL5):c.527G>T (p.Arg176Leu)
NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu) rs1768557675

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