ClinVar Miner

List of variants studied for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.-39A>G rs2066474 0.19625
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) rs2066480 0.01154
NM_000197.2(HSD17B3):c.-10G>C rs2066484 0.01032
NM_000197.2(HSD17B3):c.-29A>G rs2066476 0.01018
NM_000197.2(HSD17B3):c.804C>T (p.Cys268=) rs8190555 0.00740
NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) rs2066478 0.00665
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.333C>T (p.Asp111=) rs35189151 0.00054
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000197.2(HSD17B3):c.663C>T (p.Val221=) rs139149152 0.00015
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
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.278-1G>C rs149607031 0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) rs142236065 0.00004
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.695C>T (p.Ser232Leu) rs28939085 0.00002
NM_000197.2(HSD17B3):c.-6G>A rs200708778 0.00001
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) rs119481078 0.00001
NM_000197.2(HSD17B3):c.199G>A (p.Glu67Lys) rs1017003712 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000197.2(HSD17B3):c.540C>T (p.Ile180=) rs563341078 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_000197.1(HSD17B3):c.[194C>T];[239G>A]
NM_000197.2(HSD17B3):c.*148C>A rs778147562
NM_000197.2(HSD17B3):c.*1C>T rs1554691418
NM_000197.2(HSD17B3):c.111_118del (p.Lys37fs)
NM_000197.2(HSD17B3):c.1A>G (p.Met1Val)
NM_000197.2(HSD17B3):c.201+1G>A
NM_000197.2(HSD17B3):c.202-1G>A rs1378603446
NM_000197.2(HSD17B3):c.203T>G (p.Leu68Arg)
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) rs780178733
NM_000197.2(HSD17B3):c.252del (p.Lys84fs)
NM_000197.2(HSD17B3):c.257_265del (p.Glu86_Ile88del)
NM_000197.2(HSD17B3):c.277+5G>A
NM_000197.2(HSD17B3):c.277G>A (p.Glu93Lys)
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.590T>A (p.Met197Lys)
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)
NM_000197.2(HSD17B3):c.65dup (p.Lys23fs)
NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)
NM_000197.2(HSD17B3):c.709A>G (p.Lys237Glu)
NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) rs119481080

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