List of variants in gene PCSK9 reported as likely benign by GeneDx

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=)	rs28362262	0.00856
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=)	rs146960060	0.00289
NM_174936.4(PCSK9):c.1681+17G>A	rs200529774	0.00238
NM_174936.4(PCSK9):c.225T>C (p.Pro75=)	rs146563151	0.00191
NM_174936.4(PCSK9):c.525C>T (p.Asp175=)	rs148612296	0.00117
NM_174936.4(PCSK9):c.1929C>T (p.His643=)	rs145770391	0.00084
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)	rs140364657	0.00076
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)	rs145886902	0.00067
NM_174936.4(PCSK9):c.1864-13C>T	rs147470944	0.00033
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=)	rs138178437	0.00033
NM_174936.4(PCSK9):c.993C>T (p.Pro331=)	rs376753957	0.00022
NM_174936.4(PCSK9):c.1682-20C>A	rs372844138	0.00019
NM_174936.4(PCSK9):c.1980C>T (p.Asp660=)	rs371914056	0.00018
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)	rs151193009	0.00014
NM_174936.4(PCSK9):c.609C>T (p.Thr203=)	rs200856421	0.00007
NM_174936.4(PCSK9):c.657+8C>T	rs376502208	0.00006
NM_174936.4(PCSK9):c.1863+12C>T	rs776658758	0.00003
NM_174936.4(PCSK9):c.1863+6G>A	rs568853401	0.00003
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)	rs35574083
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)	rs35574083
NM_174936.4(PCSK9):c.52_53insCGC (p.Leu17_Leu18insPro)	rs745372726

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