ClinVar Miner

List of variants reported as likely benign for 46,XX disorder of sex development by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP
NC_000005.10:g.119452457C>G
NM_000103.4(CYP19A1):c.*2632T>C
NM_000103.4(CYP19A1):c.*460G>C rs28757208
NM_000103.4(CYP19A1):c.*53C>T
NM_000103.4(CYP19A1):c.*543C>G
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) rs2236722
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg)
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser) rs368902124
NM_000145.3(FSHR):c.*111T>C rs140106399
NM_000145.3(FSHR):c.*246T>A rs72825259
NM_000145.3(FSHR):c.*563T>C rs80295823
NM_000145.3(FSHR):c.603C>T (p.Ser201=) rs75552966
NM_000176.3(NR3C1):c.*1220_*1225dup rs72542761
NM_000176.3(NR3C1):c.*1880A>G
NM_000176.3(NR3C1):c.*2042C>T rs13306586
NM_000176.3(NR3C1):c.*290A>C rs72542758
NM_000176.3(NR3C1):c.*3076C>T rs72542769
NM_000176.3(NR3C1):c.*3153C>T rs2301177
NM_000176.3(NR3C1):c.*3550G>A rs10482714
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1570A>G (p.Thr524Ala) rs567965061
NM_000176.3(NR3C1):c.193T>G (p.Phe65Val) rs6192
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
NM_000414.4(HSD17B4):c.*135T>G rs185522709
NM_000414.4(HSD17B4):c.*278T>A rs149665666
NM_000414.4(HSD17B4):c.*83T>G rs181310520
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.4(HSD17B4):c.715-13C>T rs185869017
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000497.3(CYP11B1):c.*1076C>T rs61752806
NM_000497.3(CYP11B1):c.*1258G>A rs61752808
NM_000497.3(CYP11B1):c.*1512G>A rs61752814
NM_000497.3(CYP11B1):c.*1871T>A rs61752818
NM_000497.3(CYP11B1):c.*193A>T rs61752798
NM_000497.3(CYP11B1):c.*468C>T rs114832894
NM_000497.3(CYP11B1):c.*634G>A rs1137481
NM_000497.3(CYP11B1):c.*718T>G rs189479208
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) rs148707144
NM_000497.4(CYP11B1):c.*193A>C
NM_000941.3(POR):c.*207C>G
NM_000941.3(POR):c.1236C>T (p.Ser412=) rs41301424
NM_001018077.1(NR3C1):c.-1008C>T
NM_001018077.1(NR3C1):c.-445A>G
NM_001018077.1(NR3C1):c.-616T>G
NM_001018077.1(NR3C1):c.-620G>A
NM_001018077.1(NR3C1):c.-958G>T
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) rs104894763
NM_005448.2(BMP15):c.443T>C (p.Leu148Pro) rs114823607
NM_005448.2(BMP15):c.520C>T (p.Pro174Ser)
NM_005448.2(BMP15):c.581T>C (p.Phe194Ser) rs141218518

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