ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 49

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile) rs1185246 0.47503
NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) rs140764671 0.00473
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001038603.3(MARVELD2):c.*266T>A rs142001621 0.00094
NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) rs146746360 0.00087
NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=) rs147493796 0.00058
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) rs142560436 0.00030
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys) rs115738510 0.00020
NM_001038603.3(MARVELD2):c.1555-13A>G rs373638063 0.00016
NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met) rs139908851 0.00012
NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=) rs367611336 0.00011
NM_001038603.3(MARVELD2):c.*171G>A rs756878174 0.00010
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu) rs139234053 0.00010
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001038603.3(MARVELD2):c.950G>A (p.Arg317Gln) rs148416461 0.00009
NM_001038603.3(MARVELD2):c.*210A>G rs886060737 0.00006
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) rs145027254 0.00006
NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) rs181575833 0.00006
NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser) rs202188305 0.00004
NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr) rs556047320 0.00004
NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala) rs141046438 0.00004
NM_001038603.3(MARVELD2):c.*121C>T rs886060735 0.00003
NM_001038603.3(MARVELD2):c.1320C>A (p.Pro440=) rs376627126 0.00003
NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu) rs727503161 0.00003
NM_001038603.3(MARVELD2):c.1491G>A (p.Ser497=) rs149176039 0.00003
NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=) rs770894315 0.00003
NM_001038603.3(MARVELD2):c.958C>G (p.Leu320Val) rs767827863 0.00003
NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=) rs772209957 0.00002
NM_001038603.3(MARVELD2):c.*184C>T rs886060736 0.00001
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001038603.3(MARVELD2):c.1443G>A (p.Arg481=) rs753543276 0.00001
NM_001038603.3(MARVELD2):c.1562C>A (p.Thr521Lys) rs750561732 0.00001
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) rs199708957 0.00001
NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His) rs374313745 0.00001
NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His) rs146516550 0.00001
NM_001038603.3(MARVELD2):c.*157T>C rs374775664
NM_001038603.3(MARVELD2):c.*346C>G rs1767342960
NM_001038603.3(MARVELD2):c.*376C>T rs756402195
NM_001038603.3(MARVELD2):c.*8T>G rs1767331338
NM_001038603.3(MARVELD2):c.*97C>T rs568296893
NM_001038603.3(MARVELD2):c.1049T>C (p.Val350Ala) rs886060733
NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter) rs2150915422
NM_001038603.3(MARVELD2):c.1147-9T>G rs299099
NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs) rs772030670
NM_001038603.3(MARVELD2):c.1216G>A (p.Asp406Asn) rs886060734
NM_001038603.3(MARVELD2):c.1253A>T (p.Lys418Ile) rs1766998325
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001038603.3(MARVELD2):c.1331+4_1331+7del
NM_001038603.3(MARVELD2):c.1554+286T>C
NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro) rs151176949
NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs) rs2150914115
NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser) rs886060731
NM_001038603.3(MARVELD2):c.666C>G (p.Tyr222Ter)
NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys) rs886060732
NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln) rs1766579334

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.