List of variants reported as uncertain significance for Koolen-de Vries syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_015443.4(KANSL1):c.1261G>A (p.Ala421Thr)	rs150115249	0.00010
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser)	rs200903841	0.00008
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr)	rs140089320	0.00007
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)	rs570475423	0.00005
NM_015443.4(KANSL1):c.1848+3C>T	rs763185589	0.00004
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His)	rs781056926	0.00004
NM_015443.4(KANSL1):c.1945C>G (p.His649Asp)	rs759914921	0.00003
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)	rs773681267	0.00002
NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg)	rs774020325	0.00002
NM_015443.4(KANSL1):c.1391G>A (p.Arg464His)	rs769289937	0.00001
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala)	rs947698008	0.00001
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu)	rs761904173	0.00001
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met)	rs749337566	0.00001
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp)	rs1322831151	0.00001
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln)	rs376635152	0.00001
NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala)	rs371450753	0.00001
NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val)	rs760256746	0.00001
NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser)	rs199769766	0.00001
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)	rs775582928	0.00001
NM_015443.4(KANSL1):c.496A>G (p.Thr166Ala)	rs778413024	0.00001
NM_015443.4(KANSL1):c.608G>T (p.Gly203Val)	rs759522694	0.00001
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr)	rs776741181
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)	rs200979425
NM_015443.4(KANSL1):c.2014C>G (p.Pro672Ala)	rs1446402549
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser)	rs752325882
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile)	rs760506954
NM_015443.4(KANSL1):c.577A>G (p.Met193Val)	rs2147744657
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg)	rs138175526
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala)	rs745305837
NM_015443.4(KANSL1):c.954A>T (p.Gln318His)	rs773332161

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