List of variants in gene PCSK9 reported as uncertain significance by Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge

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: 44

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HGVS	dbSNP	gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)	rs509504	0.98223
NM_174936.4(PCSK9):c.657+9G>A	rs11800243	0.03991
NM_174936.4(PCSK9):c.658-36G>A	rs11800265	0.03888
NM_174936.4(PCSK9):c.705C>T (p.Ser235=)	rs7552471	0.02435
NM_174936.4(PCSK9):c.*75C>T	rs28362287	0.02377
NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	rs28385701	0.00815
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)	rs41297883	0.00500
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)	rs28362261	0.00485
NM_174936.4(PCSK9):c.753C>T (p.Arg251=)	rs28385710	0.00219
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	rs148195424	0.00066
NM_174936.4(PCSK9):c.996+51A>G	rs45573036	0.00036
NM_174936.4(PCSK9):c.-331C>A	rs778796405	0.00026
NM_174936.4(PCSK9):c.799+26C>T	rs201405859	0.00025
NM_174936.4(PCSK9):c.1181-39C>T	rs372353877	0.00006
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)	rs139669564	0.00005
NM_174936.4(PCSK9):c.1863+6G>A	rs568853401	0.00003
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser)	rs149489325	0.00002
NM_174936.4(PCSK9):c.-8T>C	rs886039837	0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)	rs374603772	0.00001
NM_174936.4(PCSK9):c.1681+39C>T	rs886039850	0.00001
NM_174936.4(PCSK9):c.1681+50T>C	rs758072703	0.00001
NM_174936.4(PCSK9):c.321C>T (p.Tyr107=)	rs886039840	0.00001
NM_174936.4(PCSK9):c.-245G>T	rs28362201
NM_174936.4(PCSK9):c.-67C>A	rs886039836
NM_174936.4(PCSK9):c.-73A>G	rs886039835
NM_174936.4(PCSK9):c.1180+22T>C	rs886039848
NM_174936.4(PCSK9):c.1181-53T>C	rs886039849
NM_174936.4(PCSK9):c.372G>A (p.Val124=)	rs886039841
NM_174936.4(PCSK9):c.400-11G>A	rs886039844
NM_174936.4(PCSK9):c.400-22C>A	rs886039843
NM_174936.4(PCSK9):c.400-94G>A	rs886039842
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.503C>A (p.Ala168Glu)	rs770592607
NM_174936.4(PCSK9):c.644G>A (p.Arg215His)	rs794728683
NM_174936.4(PCSK9):c.654A>T (p.Arg218Ser)	rs970575319
NM_174936.4(PCSK9):c.657+107C>T	rs886039846
NM_174936.4(PCSK9):c.657+114del	rs397735050
NM_174936.4(PCSK9):c.657+91G>C	rs886039845
NM_174936.4(PCSK9):c.658-36G>C	rs11800265
NM_174936.4(PCSK9):c.733G>A (p.Ala245Thr)	rs1210030445
NM_174936.4(PCSK9):c.815G>A (p.Arg272Gln)	rs1486032110
NM_174936.4(PCSK9):c.996+44A>G	rs67578331
NM_174936.4(PCSK9):c.996+65G>C	rs886039847

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