List of variants in gene HSD17B4, LOC129994460 studied for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00019
NM_000414.4(HSD17B4):c.54G>A (p.Gly18=)	rs769227162	0.00004
NM_000414.4(HSD17B4):c.27G>A (p.Gly9=)	rs370888351	0.00002
NM_000414.4(HSD17B4):c.39G>T (p.Leu13=)	rs763266528	0.00002
NM_000414.4(HSD17B4):c.45C>T (p.Thr15=)	rs751737033	0.00002
NM_000414.4(HSD17B4):c.58+1G>T	rs1260517680	0.00001
NM_000414.4(HSD17B4):c.58+7A>G	rs1231409834	0.00001
NM_000414.4(HSD17B4):c.30G>A (p.Arg10=)
NM_000414.4(HSD17B4):c.33G>T (p.Val11=)
NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)
NM_000414.4(HSD17B4):c.48C>A (p.Gly16=)
NM_000414.4(HSD17B4):c.51G>A (p.Ala17=)
NM_000414.4(HSD17B4):c.51G>T (p.Ala17=)	rs756529538
NM_000414.4(HSD17B4):c.58+10C>T	rs1460258638
NM_000414.4(HSD17B4):c.58+11_58+35del
NM_000414.4(HSD17B4):c.58+14G>A
NM_000414.4(HSD17B4):c.58+1G>C	rs1260517680

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