ClinVar Miner

List of variants reported as pathogenic for 46 XX gonadal dysgenesis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3
GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3
NM_000145.3(FSHR):c.1255G>A (p.Ala419Thr) rs121909661
NM_000145.3(FSHR):c.1555C>A (p.Pro519Thr) rs121909662
NM_000145.3(FSHR):c.1717C>T (p.Arg573Cys) rs121909660
NM_000145.3(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) rs121909659
NM_000145.3(FSHR):c.566C>T (p.Ala189Val) rs121909658
NM_001040275.1(ESR2):c.941A>G (p.Lys314Arg) rs1567753148
NM_001101677.2(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001101677.2(SOHLH1):c.705del (p.Lys236fs) rs864309645
NM_001256016.1(PSMC3IP):c.377del (p.Glu126fs)
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) rs1556370543
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) rs104894763
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) rs104894766
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767
NM_005448.2(BMP15):c.631C>T (p.Gln211Ter) rs137853320
NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys) rs104894765
NM_020191.3(MRPS22):c.404G>A (p.Arg135Gln) rs774237195
NM_020191.3(MRPS22):c.605G>A (p.Arg202His) rs753345594
NM_020401.4(NUP107):c.1339G>A (p.Asp447Asn) rs1555178358
NM_030761.5(WNT4):c.341C>T (p.Ala114Val) rs121908651
NM_170607.2(MLX):c.*1418_*1420CCT[1]
SOX9, 148-KB DUP, UPSTREAM REGULATORY REGION
SOX9, 178-KB DUP, UPSTREAM REGULATORY REGION
SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.