List of variants reported as pathogenic for Hereditary pancreatitis by Labcorp Genetics (formerly Invitae), Labcorp

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001379610.1(SPINK1):c.194+2T>C	rs148954387	0.00016
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)	rs202003805	0.00009
NM_001379610.1(SPINK1):c.27del (p.Ser10fs)	rs193922659	0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)	rs111033568	0.00002
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	rs111033565	0.00001
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	rs111033566	0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)	rs747905422	0.00001
NC_000001.10:g.(?_15764955)_(15773090_?)del
NC_000001.10:g.(?_15764961)_(16063358_?)del
NC_000005.10:g.(?_147824641)_(147831792_?)del
NC_000005.10:g.(?_147824655)_(147831583_?)del
NC_000005.10:g.(?_147824661)_(147831792_?)del
NC_000007.13:g.(?_142457132)_(142457395_?)dup
NC_000007.13:g.(?_142457132)_(142460438_?)dup
NC_000007.13:g.(?_142457330)_(142460424_?)dup
NM_002769.5(PRSS1):c.116T>C (p.Val39Ala)	rs397507439
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)	rs515726210

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.