List of variants reported as uncertain significance for Stankiewicz-Isidor syndrome

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002816.5(PSMD12):c.881A>G (p.Lys294Arg)	rs201685625	0.00017
NM_002816.5(PSMD12):c.211G>T (p.Val71Leu)	rs1332334979	0.00002
NM_002816.5(PSMD12):c.1328C>T (p.Thr443Met)	rs2041907889	0.00001
NM_002816.5(PSMD12):c.1096A>G (p.Met366Val)	rs1598552881
NM_002816.5(PSMD12):c.1157T>C (p.Val386Ala)	rs2509679118
NM_002816.5(PSMD12):c.1164_1166delinsTTT (p.Glu388_Ser389delinsAspPhe)	rs2509678235
NM_002816.5(PSMD12):c.1272A>T (p.Leu424Phe)	rs2143677818
NM_002816.5(PSMD12):c.1342A>G (p.Lys448Glu)	rs2509677961
NM_002816.5(PSMD12):c.299C>T (p.Ala100Val)	rs2509687610
NM_002816.5(PSMD12):c.355C>T (p.Pro119Ser)	rs2042005294
NM_002816.5(PSMD12):c.635A>G (p.Lys212Arg)	rs758825490
NM_002816.5(PSMD12):c.79C>A (p.Arg27Ser)	rs1168437403

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