List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 67

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)	rs104893976	0.00010
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys)	rs104893975	0.00003
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)	rs762876554	0.00001
LHFPL5, 1-BP DEL, 185T
LHFPL5, ARG158TRP
NM_182548.4(LHFPL5):c.*16+1G>A	rs1445573930
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)	rs1060499810
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)	rs779841884
NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)	rs2151070794
NM_182548.4(LHFPL5):c.649+1del	rs1581972457

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