ClinVar Miner

List of variants studied for cholangitis by Genome-Nilou Lab

Included ClinVar conditions (7):

Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis
Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis
Isolated neonatal sclerosing cholangitis
Low phospholipid associated cholelithiasis
Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3
Neonatal ichthyosis-sclerosing cholangitis syndrome
Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016356.5(DCDC2):c.426-13C>T	rs807703	0.98337
NM_021101.5(CLDN1):c.369T>C (p.Gly123=)	rs9869263	0.83180
NM_016356.5(DCDC2):c.*3C>G	rs9358755	0.72045
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly)	rs2274305	0.51051
NM_016356.5(DCDC2):c.1017C>T (p.Val339=)	rs9467075	0.13584

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