List of variants studied for Bifunctional peroxisomal enzyme deficiency by Genome-Nilou Lab

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.1767+57C>T	rs2636961	0.62419
NM_000414.4(HSD17B4):c.434+120A>G	rs463513	0.51755
NM_000414.4(HSD17B4):c.1261+47A>G	rs455949	0.44255
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)	rs11205	0.40811
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.1993+74G>C	rs17145464	0.27392
NM_000414.4(HSD17B4):c.1210-78T>C	rs257969	0.27308
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)	rs11539471	0.13537
NM_000414.4(HSD17B4):c.2122-34C>T	rs28943593	0.09221
NM_000414.4(HSD17B4):c.739+23T>C	rs6895345	0.04752
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp)	rs201455193	0.00016
NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val)	rs1385683079	0.00001
NM_000414.4(HSD17B4):c.-75C>G	rs26180

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