ClinVar Miner

List of variants studied for 46 XX gonadal dysgenesis by OMIM

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767 0.01035
NM_000145.4(FSHR):c.566C>T (p.Ala189Val) rs121909658 0.00059
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) rs104894763 0.00056
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) rs104894766 0.00025
NM_000145.4(FSHR):c.479T>C (p.Ile160Thr) rs121909659 0.00002
NM_020191.4(MRPS22):c.605G>A (p.Arg202His) rs753345594 0.00002
NM_000145.4(FSHR):c.1717C>T (p.Arg573Cys) rs121909660 0.00001
NM_005448.2(BMP15):c.631C>T (p.Gln211Ter) rs137853320 0.00001
NM_000145.4(FSHR):c.1255G>A (p.Ala419Thr) rs121909661
NM_000145.4(FSHR):c.1555C>A (p.Pro519Thr) rs121909662
NM_000145.4(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_001042697.2(ZSWIM7):c.173C>G (p.Ser58Ter) rs1970424535
NM_001080394.4(SPIDR):c.814C>T (p.Arg272Ter) rs782042817
NM_001080394.4(SPIDR):c.839G>A (p.Trp280Ter) rs1554668422
NM_001101677.2(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001101677.2(SOHLH1):c.705del (p.Lys236fs) rs864309645
NM_001437.3(ESR2):c.941A>G (p.Lys314Arg) rs1567753148
NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys) rs104894765
NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln) rs774237195
NM_020401.4(NUP107):c.1339G>A (p.Asp447Asn) rs1555178358
NM_030761.5(WNT4):c.341C>T (p.Ala114Val) rs121908651
NM_198204.2(MLX):c.*1418CCT[1] rs2093045125

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