List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_016356.5(DCDC2):c.349-2A>G	rs760040426	0.00003
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)	rs1050411259	0.00001
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)	rs757704417
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)	rs904520404

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