List of variants reported as benign for popliteal pterygium syndrome by Genome-Nilou Lab

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_020639.3(RIPK4):c.1996A>G (p.Met666Val)	rs3746891	0.98229
NM_020639.3(RIPK4):c.937-45T>G	rs2277790	0.70798
NM_020639.3(RIPK4):c.1196-43A>G	rs3746895	0.54619
NM_020639.3(RIPK4):c.1548C>T (p.Asp516=)	rs2838113	0.53199
NM_020639.3(RIPK4):c.2331G>A (p.Thr777=)	rs7276592	0.41978
NM_020639.3(RIPK4):c.1476G>A (p.Ala492=)	rs3746893	0.41949
NM_020639.3(RIPK4):c.1203C>T (p.Gly401=)	rs3746894	0.41922
NM_020639.3(RIPK4):c.1005G>T (p.Leu335=)	rs2277789	0.38050
NM_006147.4(IRF6):c.459G>T (p.Ser153=)	rs2013162	0.35925
NM_006147.4(IRF6):c.175-5C>G	rs7552506	0.32118
NM_020639.3(RIPK4):c.360A>C (p.Arg120=)	rs13049286	0.13916
NM_020639.3(RIPK4):c.327T>C (p.Ala109=)	rs2277791	0.13904
NM_006147.4(IRF6):c.667+27C>G	rs2235375
NM_020639.3(RIPK4):c.630G>C (p.Ala210=)	rs2838114

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