List of variants in gene HSD17B4 reported as benign for Perrault syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.1767+57C>T	rs2636961	0.62409
NM_000414.4(HSD17B4):c.434+120A>G	rs463513	0.51367
NM_000414.4(HSD17B4):c.1261+47A>G	rs455949	0.44330
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.434+44T>C	rs457106	0.36386
NM_000414.4(HSD17B4):c.1210-78T>C	rs257969	0.27308
NM_000414.4(HSD17B4):c.1993+74G>C	rs17145464	0.27235
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)	rs11539471	0.14167
NM_000414.4(HSD17B4):c.2122-34C>T	rs28943593	0.09221
NM_000414.4(HSD17B4):c.*260A>G	rs28943596	0.05395
NM_000414.4(HSD17B4):c.739+23T>C	rs6895345	0.04079
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.420A>T (p.Lys140Asn)	rs28943589	0.02134
NM_000414.4(HSD17B4):c.*6A>G	rs111671384	0.00777
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.1059G>A (p.Ala353=)	rs57972893	0.00273
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)	rs28943592	0.00265
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)	rs192301957	0.00034
NM_000414.4(HSD17B4):c.1767+8T>C	rs190659146	0.00014
NM_000414.4(HSD17B4):c.-27G>C	rs34604765
NM_000414.4(HSD17B4):c.-75C>G	rs26180

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