List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	rs111033270	0.00016
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	rs780987516	0.00006
NM_022124.6(CDH23):c.6050-9G>A	rs367928692	0.00006
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)	rs397517329	0.00004
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)	rs750027965	0.00002
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	rs745571683	0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	rs121908354	0.00001

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