ClinVar Miner

List of variants reported as benign for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome by Invitae

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000414.4(HSD17B4):c.740-16T>G rs35416500 0.00789
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000414.4(HSD17B4):c.1503+12T>G rs111239597 0.00033
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491 0.00001
NM_000414.4(HSD17B4):c.1209+17dup
NM_000414.4(HSD17B4):c.1210-17del rs781059702
NM_000414.4(HSD17B4):c.1334-4del rs2126813978
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1503+16dup
NM_000414.4(HSD17B4):c.1503+22del
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr)
NM_000414.4(HSD17B4):c.1767+18del
NM_000414.4(HSD17B4):c.302+23del
NM_000414.4(HSD17B4):c.739+20dup
NM_000414.4(HSD17B4):c.972+15del rs763801604

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