ClinVar Miner

List of variants studied for Pure gonadal dysgenesis 46,XY

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_021951.3(DMRT1):c.967G>A (p.Val323Ile) rs746758951 0.00001
NM_000044.6(AR):c.1462C>T (p.Gln488Ter) rs1929774367
NM_005189.3(CBX2):c.288+52G>T rs201168057
NM_005189.3(CBX2):c.629G>A (p.Gly210Asp)
NM_017780.4(CHD7):c.4388T>C (p.Leu1463Pro) rs2150779325

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