ClinVar Miner

List of variants reported as pathogenic by Institute of Reproductive and Stem Cell Engineering, Central South University

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001282717.2(STAG3):c.1573+5G>A rs376787666 0.00001
NM_173494.2(DNAAF6):c.290G>T (p.Gly97Val) rs765827471 0.00001
NM_000044.6(AR):c.2450-6C>G rs754515125
NM_000348.4(SRD5A2):c.218del (p.Leu73fs) rs1553329427
NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg) rs121434250
NM_001136046.3(ZMYND15):c.1209T>A (p.Tyr403Ter) rs752801920
NM_001136046.3(ZMYND15):c.1622_1636delinsCCAC (p.Leu541fs) rs2150630821
NM_001136046.3(ZMYND15):c.1650del (p.Glu551fs) rs1484755918
NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly) rs1254456989
NM_001321739.2(M1AP):c.1435-1G>A rs1677697539
NM_001347886.2(DNAH3):c.5005G>A (p.Gly1669Ser)
NM_001347886.2(DNAH3):c.7339G>A (p.Asp2447Asn)
NM_014290.3(TDRD7):c.328dup (p.Thr110fs) rs1554743428
NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter) rs1554744860
NM_023067.4(FOXL2):c.462_468del (p.Pro156fs) rs1553752894
NM_023067.4(FOXL2):c.988dup (p.Ala330fs) rs1553752779
NM_024867.4(SPEF2):c.2507+5del rs1739374011
NM_173494.2(DNAAF6):c.322_332del (p.Glu108Valfs) rs1928059485
NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter) rs1269179049

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