List of variants in gene HSD17B4 reported as likely benign for Bifunctional peroxisomal enzyme deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)	rs1143650	0.02248
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)	rs150677536	0.00351
NM_000414.4(HSD17B4):c.-28C>T	rs34353289	0.00334
NM_000414.4(HSD17B4):c.715-13C>T	rs185869017	0.00213
NM_000414.4(HSD17B4):c.*83T>G	rs181310520	0.00199
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)	rs192301957	0.00034
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)	rs73790880	0.00030
NM_000414.4(HSD17B4):c.1261+14A>G	rs371682983	0.00029
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)	rs150326995	0.00021
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)	rs369449821	0.00019
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)	rs771922933	0.00011
NM_000414.4(HSD17B4):c.113-2206T>C	rs541081959	0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)	rs200347945	0.00004
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=)	rs370055428	0.00003
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=)	rs762731834	0.00002
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=)	rs778708979	0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)	rs758045328	0.00001
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=)	rs770261826	0.00001
NM_000414.4(HSD17B4):c.-27G>C	rs34604765
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)	rs28943591
NM_000414.4(HSD17B4):c.58+127_58+129del	rs1394106982
NM_000414.4(HSD17B4):c.58+189G>C	rs1554059562

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