List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 12 by Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)	rs756147087	0.00009
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)	rs750880909	0.00002
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	rs121908354	0.00001
NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys)	rs1264310782	0.00001
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)	rs1060499791
NM_022124.6(CDH23):c.1934A>G (p.Asp645Gly)	rs1390562340
NM_022124.6(CDH23):c.4877A>C (p.Asp1626Ala)	rs1554871816
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)	rs758382198
NM_022124.6(CDH23):c.6667del (p.Leu2223fs)	rs1554874879
NM_022124.6(CDH23):c.6712+1G>A	rs1554874900
NM_022124.6(CDH23):c.9129del (p.Asn3044fs)	rs1554877797

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