ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 49 by OMIM

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Total variants: 5
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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.1183-1G>A rs200781822 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719

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