List of variants in gene GLB1, LOC129936434, TMPPE studied for syndromic dyslipidemia

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.34T>C (p.Leu12=)	rs7614776	0.88431
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)	rs7637099	0.48281
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)	rs77988381	0.00028
NM_000404.4(GLB1):c.75+2dup	rs587776525	0.00021
NM_000404.3(GLB1):c.[276G>A];[75+5G>C]
NM_000404.4(GLB1):c.29dup (p.Leu11fs)
NM_000404.4(GLB1):c.3G>A (p.Met1Ile)
NM_000404.4(GLB1):c.47del (p.Leu16fs)
NM_000404.4(GLB1):c.65_75+1del	rs1382394474
NM_000404.4(GLB1):c.75+3_75+4del
NM_000404.4(GLB1):c.75+4dup	rs2125591475

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