List of variants in gene combination HSD17B3, SLC35D2-HSD17B3 reported as pathogenic for Testosterone 17-beta-dehydrogenase deficiency

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000197.2(HSD17B3):c.277+4A>T	rs201115371	0.00038
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln)	rs119481075	0.00009
NM_000197.2(HSD17B3):c.278-1G>C	rs149607031	0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)	rs119481079	0.00004
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu)	rs28939085	0.00002
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr)	rs119481078	0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp)	rs119481077	0.00001
NM_000197.2(HSD17B3):c.607-1G>A	rs730880305	0.00001
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val)	rs119481074	0.00001
NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)
NM_000197.2(HSD17B3):c.202-1G>A	rs1378603446
NM_000197.2(HSD17B3):c.277G>A (p.Glu93Lys)
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val)	rs119481076
NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr)	rs119481080

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