ClinVar Miner

List of variants in gene LCAT, SLC12A4 studied for LCAT deficiency

Included ClinVar conditions (4):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000229.2(LCAT):c.35C>T (p.Thr12Met)	rs560140762	0.00007
NM_000229.2(LCAT):c.110C>T (p.Thr37Met)	rs971887742	0.00001
NM_000229.2(LCAT):c.101C>T (p.Pro34Leu)	rs121908051
NM_000229.2(LCAT):c.101dup (p.His35fs)

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