ClinVar Miner

List of variants in gene BMP15 studied for 46 XX gonadal dysgenesis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) rs113099187
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.596del (p.Gly199fs) rs782784547
NM_005448.2(BMP15):c.631C>T (p.Gln211Ter) rs137853320
NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys) rs104894765

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