ClinVar Miner

List of variants reported as uncertain significance for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_000197.2(HSD17B3):c.9C>T (p.Asp3=) rs139582148 0.00056
NM_000197.2(HSD17B3):c.663C>T (p.Val221=) rs139149152 0.00015
NM_000197.2(HSD17B3):c.489+9T>C rs370307178 0.00009
NM_000197.2(HSD17B3):c.328G>T (p.Asp110Tyr) rs150424854 0.00006
NM_000197.2(HSD17B3):c.441G>A (p.Pro147=) rs188471808 0.00005
NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly) rs370264627 0.00004
NM_000197.2(HSD17B3):c.880C>T (p.Leu294=) rs762619509 0.00004
NM_000197.2(HSD17B3):c.-34C>T rs759418931 0.00002
NM_000197.2(HSD17B3):c.-6G>A rs200708778 0.00001
NM_000197.2(HSD17B3):c.199G>A (p.Glu67Lys) rs1017003712 0.00001
NM_000197.2(HSD17B3):c.540C>T (p.Ile180=) rs563341078 0.00001
NM_000197.2(HSD17B3):c.*148C>A rs778147562
NM_000197.2(HSD17B3):c.*1C>T rs1554691418
NM_000197.2(HSD17B3):c.257_265del (p.Glu86_Ile88del)
NM_000197.2(HSD17B3):c.278-6G>C rs2066483
NM_000197.2(HSD17B3):c.376G>A (p.Gly126Arg)
NM_000197.2(HSD17B3):c.385+5G>A rs1564030844
NM_000197.2(HSD17B3):c.386-5G>A rs1045653050
NM_000197.2(HSD17B3):c.435C>T (p.Asn145=) rs115684579
NM_000197.2(HSD17B3):c.490-4G>T rs1313736012
NM_000197.2(HSD17B3):c.709A>G (p.Lys237Glu)

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