List of variants in gene APC reported as likely pathogenic by Counsyl

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_000038.6(APC):c.70C>T (p.Arg24Ter)	rs145945630	0.00003
NM_000038.6(APC):c.1312+3A>G	rs863225311
NM_000038.6(APC):c.1530dup (p.Gly511fs)	rs1554081749
NM_000038.6(APC):c.1548+2T>C	rs1057517561
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer)	rs1554082135
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)	rs863225332
NM_000038.6(APC):c.3013_3019del (p.Ala1005fs)	rs1057517553
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)	rs863225345
NM_000038.6(APC):c.388del (p.Ser130fs)	rs1554069828
NM_000038.6(APC):c.422+2T>C	rs879254169
NM_000038.6(APC):c.4619_4620del (p.Glu1540fs)	rs1554086015
NM_000038.6(APC):c.476dup (p.Tyr159Ter)	rs878853451
NM_000038.6(APC):c.531+1G>C	rs876659973
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs)	rs1554086854
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter)	rs1554086862
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs)	rs1057517544
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)	rs1057517568
NM_000038.6(APC):c.933+2T>C	rs1057517559
NM_001127510.3(APC):c.1917dup (p.Arg640fs)	rs397515732

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