List of variants reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 49

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)	rs118203957	0.00009
NM_001038603.3(MARVELD2):c.782G>A (p.Gly261Glu)	rs556959034	0.00002
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.1122dup (p.Arg375Ter)	rs2150915422
NM_001038603.3(MARVELD2):c.1123dup (p.Arg375fs)
NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs)	rs772030670
NM_001038603.3(MARVELD2):c.1363C>T (p.Arg455Ter)
NM_001038603.3(MARVELD2):c.1512_1515del (p.Arg505fs)
NM_001038603.3(MARVELD2):c.1578del (p.Glu527fs)
NM_001038603.3(MARVELD2):c.719del (p.Gly240fs)
NM_001038603.3(MARVELD2):c.802ATT[2] (p.Ile270del)

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