List of variants reported as benign for polycythemia 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: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000003.12:g.10141653G>A	rs779805	0.56161
NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser)	rs12097901	0.15191
NM_022051.3(EGLN1):c.471G>C (p.Gln157His)	rs61750991	0.01830
NM_000551.4(VHL):c.340+648T>C	rs73024533	0.01009
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	rs35460768	0.00261
NM_022051.3(EGLN1):c.1113C>T (p.Arg371=)	rs143991968	0.00206
NM_000551.4(VHL):c.340+5G>C	rs61758376	0.00190
NM_022051.3(EGLN1):c.1272C>T (p.Asp424=)	rs61734647	0.00188
NC_000003.12:g.10141751T>G	rs34271731	0.00106
NM_000551.4(VHL):c.-5A>C	rs35793832	0.00106
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu)	rs186996510	0.00079
NM_022051.3(EGLN1):c.891+17G>C	rs200793131	0.00076
NM_000551.4(VHL):c.150C>G (p.Ala50=)	rs61751580	0.00070
NM_000551.4(VHL):c.183C>G (p.Pro61=)	rs63650860	0.00067
NM_000551.4(VHL):c.463+8C>T	rs5030834	0.00051
NM_022051.3(EGLN1):c.1259C>T (p.Ser420Leu)	rs147839743	0.00049
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_000551.4(VHL):c.340+679T>G	rs866935879	0.00037
NM_022051.3(EGLN1):c.120C>T (p.Phe40=)	rs555121182	0.00029
NM_022051.3(EGLN1):c.354C>T (p.Ala118=)	rs1370030808	0.00016
NM_000551.4(VHL):c.*70C>T	rs552290225	0.00011
NM_022051.3(EGLN1):c.843C>T (p.Arg281=)	rs143108243	0.00009
NM_000551.4(VHL):c.340+837A>G	rs190906863	0.00006
NM_000551.4(VHL):c.340+621T>C	rs562162481	0.00005
NM_022051.3(EGLN1):c.1011+7A>G	rs199507950	0.00003
NM_000551.4(VHL):c.340+724G>C	rs900590059	0.00002
NM_000551.4(VHL):c.340+595C>T	rs1335472800	0.00001
NM_022051.3(EGLN1):c.1216+7G>A	rs541795999	0.00001
NM_022051.3(EGLN1):c.477G>A (p.Lys159=)	rs766985056	0.00001
NM_000551.4(VHL):c.183C>T (p.Pro61=)	rs63650860
NM_000551.4(VHL):c.463+20dup
NM_000551.4(VHL):c.463+37_463+39del	rs869025658
NM_022051.3(EGLN1):c.1011+15T>C
NM_022051.3(EGLN1):c.318C>T (p.Asp106=)

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.