List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 2 by Mendelics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)	rs111033214	0.00004
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)	rs1591310948	0.00001
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs)	rs1591287317
NM_000260.4(MYO7A):c.183del (p.Thr62fs)	rs1446588093
NM_000260.4(MYO7A):c.2750del (p.Glu917fs)	rs1591378140
NM_000260.4(MYO7A):c.285+2T>C	rs782292032
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)	rs751769391
NM_000260.4(MYO7A):c.6439-1G>A	rs1591514873

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