List of variants reported as pathogenic for autosomal recessive disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)	rs767503038	0.00026
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	rs145226920	0.00016
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)	rs573267388	0.00010
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	rs137853063	0.00006
NM_006736.6(DNAJB2):c.620-1G>A	rs764813110	0.00002
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter)	rs121912501	0.00001
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)	rs137852665	0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)	rs267607016	0.00001
NM_016194.4(GNB5):c.375+3A>G	rs766004901	0.00001
NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter)	rs1580117891
NM_001267550.2(TTN):c.2370+2T>C	rs1574817395
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)	rs1200988060
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs)	rs879253865
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	rs771364038
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)	rs1308509155
NM_004560.4(ROR2):c.2T>G (p.Met1Arg)	rs2118126851
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)	rs121909087
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter)	rs121909086
NM_004560.4(ROR2):c.675del (p.Gln225fs)	rs2118702517
NM_004560.4(ROR2):c.79_80del (p.Ser29fs)	rs2118125646
NM_004560.4(ROR2):c.990del (p.Thr331fs)	rs1837228121
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)	rs1574643342
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)	rs879253866
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp)	rs1057519454
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)	rs373730800
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)	rs749597091
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)	rs150331292
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)	rs753460205
NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter)	rs749190523
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)	rs786205483
NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro)	rs587777641
NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs)	rs587777642
Single allele

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