List of variants in gene VPS13C reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_020821.3(VPS13C):c.6880C>T (p.Arg2294Ter)	rs756128065	0.00001
NM_020821.3(VPS13C):c.3003_3004del (p.Asn1001fs)	rs2045367114
NM_020821.3(VPS13C):c.4339del (p.Arg1447fs)	rs2044811142
NM_020821.3(VPS13C):c.751C>T (p.Arg251Ter)

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