List of variants studied for Houge-Janssens syndrome 2 by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_014225.6(PPP2R1A):c.*136C>T	rs41275804	0.00265
NM_014225.6(PPP2R1A):c.1306G>A (p.Val436Met)	rs1978832523
NM_014225.6(PPP2R1A):c.15C>G (p.Asp5Glu)	rs2089438141
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)	rs1057519946
NM_014225.6(PPP2R1A):c.775G>A (p.Val259Ile)	rs2089688265

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