List of variants in gene MARVELD2 reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 49

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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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.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.1208_1211del (p.Arg403fs)	rs772030670

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