List of variants studied for congenital hypogonadotropic hypogonadism by GeneReviews

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_006261.5(PROP1):c.150del (p.Arg53fs)	rs587776683	0.00006
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu)	rs541098659	0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)	rs587777167	0.00001
NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp)	rs587777615
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	rs606231167
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)	rs121434415
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)	rs786201037
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	rs587776682
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser)	rs121917841
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	rs193922688
NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs)	rs1553437083
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys)	rs121434310
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)	rs770374710
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	rs770374710
NM_025000.4(DCAF17):c.436del (p.Ala147fs)	rs797045038

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