ClinVar Miner

List of variants studied for reproductive system disorder by Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo

Included ClinVar conditions (670):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala) rs1110061 0.24774
NM_003140.3(SRY):c.-33T>A
NM_003140.3(SRY):c.568A>C (p.Ser190Arg)
NM_004959.5(NR5A1):c.393G>A (p.Pro131=)

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