ClinVar Miner

List of variants studied for cholestasis, progressive familial intrahepatic, 4 by Baylor Genetics

Included ClinVar conditions (2):

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)	rs199767035	0.00029
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)	rs928915940	0.00001
NM_004817.4(TJP2):c.1243del (p.Ser415fs)	rs1057518679
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter)	rs1830481830

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