List of variants studied for Beemer-Langer syndrome by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)	rs145693546	0.00129
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)	rs200190291	0.00090
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)	rs140202230	0.00023
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	rs769864196	0.00005
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)	rs376133710	0.00002
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)	rs1301705612	0.00001
NM_020800.3(IFT80):c.487_490del (p.Leu163fs)	rs1553764834
NM_024753.5(TTC21B):c.1320del (p.Phe440fs)	rs775836730
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)	rs759086770
NM_025132.4(WDR19):c.3484-2A>C	rs1553918403
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn)	rs1451698951

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