List of variants in gene RIPK4 reported as pathogenic for Bartsocas-Papas syndrome 1

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter)	rs1569100177
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter)	rs387906921
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn)	rs387906922
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn)	rs387906923
NM_020639.3(RIPK4):c.777dup (p.Arg260fs)

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