List of variants reported as uncertain significance for Intellectual disability, autosomal dominant 52 by Revvity Omics, Revvity

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_018489.3(ASH1L):c.1723T>G (p.Ser575Ala)	rs112249223	0.00016
NM_018489.3(ASH1L):c.154C>T (p.Arg52Trp)	rs199618784	0.00015
NM_018489.3(ASH1L):c.7598G>A (p.Arg2533His)	rs138122556	0.00011
NM_018489.3(ASH1L):c.8641C>T (p.Arg2881Trp)	rs190341782	0.00007
NM_018489.3(ASH1L):c.4871G>A (p.Arg1624Gln)	rs931459501	0.00005
NM_018489.3(ASH1L):c.3905G>A (p.Arg1302Gln)	rs779608311	0.00003
NM_018489.3(ASH1L):c.6224-3A>T	rs761205544	0.00003
NM_018489.3(ASH1L):c.7046A>G (p.Asn2349Ser)	rs373014963	0.00003
NM_018489.3(ASH1L):c.1607G>T (p.Gly536Val)	rs375895779	0.00001
NM_018489.3(ASH1L):c.2162A>C (p.Lys721Thr)	rs767107285	0.00001
NM_018489.3(ASH1L):c.221C>T (p.Ser74Leu)	rs769272721	0.00001
NM_018489.3(ASH1L):c.2239T>C (p.Cys747Arg)	rs770789015	0.00001
NM_018489.3(ASH1L):c.2387G>A (p.Ser796Asn)	rs575594491	0.00001
NM_018489.3(ASH1L):c.5038T>G (p.Cys1680Gly)	rs1664153552	0.00001
NM_018489.3(ASH1L):c.5371T>G (p.Ser1791Ala)	rs1203988797	0.00001
NM_018489.3(ASH1L):c.574A>G (p.Thr192Ala)	rs761531673	0.00001
NM_018489.3(ASH1L):c.5801A>T (p.Glu1934Val)	rs774332850	0.00001
NM_018489.3(ASH1L):c.7316G>A (p.Arg2439His)	rs1175812232	0.00001
NM_018489.3(ASH1L):c.7934G>A (p.Cys2645Tyr)	rs765774025	0.00001
NM_018489.3(ASH1L):c.8693G>A (p.Ser2898Asn)	rs776971631	0.00001
NM_018489.3(ASH1L):c.960C>T (p.Asn320=)	rs1344676096	0.00001
NM_018489.3(ASH1L):c.1541A>T (p.Tyr514Phe)	rs570668202
NM_018489.3(ASH1L):c.1982G>A (p.Ser661Asn)	rs1665907640
NM_018489.3(ASH1L):c.2707A>T (p.Met903Leu)	rs1665853650
NM_018489.3(ASH1L):c.3034G>A (p.Gly1012Arg)	rs767256816
NM_018489.3(ASH1L):c.4720C>T (p.Pro1574Ser)	rs1553264855
NM_018489.3(ASH1L):c.473A>G (p.Gln158Arg)	rs2527210849
NM_018489.3(ASH1L):c.5413C>G (p.Arg1805Gly)	rs780279320
NM_018489.3(ASH1L):c.6302G>A (p.Arg2101Lys)	rs1258595268
NM_018489.3(ASH1L):c.7051G>A (p.Glu2351Lys)	rs2148370703
NM_018489.3(ASH1L):c.71C>T (p.Ser24Phe)	rs2524745304
NM_018489.3(ASH1L):c.779G>T (p.Gly260Val)	rs1163166966
NM_018489.3(ASH1L):c.886G>C (p.Ala296Pro)	rs1338133463
NM_018489.3(ASH1L):c.8871C>G (p.Ile2957Met)	rs1399760947

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