ClinVar Miner

List of variants studied for Persistent Mullerian duct syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000479.5(AMH):c.802A>G (p.Thr268Ala) rs201324658 0.00034
NM_000479.5(AMH):c.808C>T (p.Pro270Ser) rs757506343 0.00031
NM_000479.5(AMH):c.295A>T (p.Thr99Ser) rs200226465 0.00029
NM_000479.5(AMH):c.649C>T (p.Gln217Ter) rs1183532981 0.00001
NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter) rs755196112 0.00001
NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter) rs781745214 0.00001
NM_000479.5(AMH):c.1015dup (p.Leu339fs)
NM_000479.5(AMH):c.1047_1056dup (p.Thr353fs)
NM_000479.5(AMH):c.118C>T (p.Arg40Ter)
NM_000479.5(AMH):c.1193C>T (p.Pro398Leu) rs368933314
NM_000479.5(AMH):c.209del (p.Leu70fs)
NM_000479.5(AMH):c.301G>A (p.Gly101Arg)
NM_000479.5(AMH):c.343_344del (p.Leu115fs)
NM_020547.3(AMHR2):c.1175dup (p.Leu392fs)
NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del) rs764761319
NM_020547.3(AMHR2):c.229C>T (p.Gln77Ter)
NM_020547.3(AMHR2):c.289C>T (p.Arg97Ter)
NM_020547.3(AMHR2):c.402_422delinsAGGTAGCCACCCA (p.Gln135fs)
NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter)
NM_020547.3(AMHR2):c.622-47C>T
NM_020547.3(AMHR2):c.78del (p.Phe27fs)

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