ClinVar Miner

List of variants in gene MARVELD2 studied for Autosomal recessive nonsyndromic hearing loss 49

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Total variants: 61
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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

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