List of variants in gene VIPAS39 reported as pathogenic for Arthrogryposis, renal dysfunction, and cholestasis 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter)	rs778181495	0.00001
NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter)	rs200370925	0.00001
NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter)	rs1555364979
NM_001193315.2(VIPAS39):c.177_179delinsAAA (p.Trp59_Ser60delinsTer)	rs2139895315
NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg)	rs267607172
NM_001193315.2(VIPAS39):c.535C>T (p.Gln179Ter)	rs267607173
NM_001193315.2(VIPAS39):c.749_753del (p.Thr250fs)	rs794726653
NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)
NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter)	rs267607171

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