List of variants in gene SCARB2 reported as likely pathogenic

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)	rs200053119	0.00003
NM_005506.4(SCARB2):c.994+2T>C	rs1168653552	0.00001
NM_005506.4(SCARB2):c.108dup (p.Ile37fs)	rs1733108376
NM_005506.4(SCARB2):c.1113+1G>T	rs2109937707
NM_005506.4(SCARB2):c.1114-2A>G
NM_005506.4(SCARB2):c.1240-2A>G
NM_005506.4(SCARB2):c.1365G>A (p.Trp455Ter)	rs995674389
NM_005506.4(SCARB2):c.235del (p.Glu79fs)	rs1732698125
NM_005506.4(SCARB2):c.424-1G>A	rs1732338984
NM_005506.4(SCARB2):c.995-16_1062delinsG

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