List of variants studied for autosomal recessive disease by Department of Molecular Biology and Genetics, Istanbul Technical University

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_007156.5(ZXDA):c.403_404del (p.Cys135fs)	rs753063356	0.00023
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn)	rs367799104	0.00011
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met)	rs200029534	0.00003
NM_024792.3(TLCD3A):c.263C>T (p.Ser88Leu)	rs756022306	0.00002
NM_032881.3(LSM10):c.112G>A (p.Val38Met)	rs374549440	0.00002
NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln)	rs751881283	0.00001
NM_016194.4(GNB5):c.391G>A (p.Val131Met)	rs1253307264	0.00001
NM_000049.4(ASPA):c.806C>T (p.Thr269Met)	rs773849106
NM_001163809.2(WDR81):c.682C>T (p.Pro228Ser)	rs560545893
NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter)	rs2057189303
NM_004560.4(ROR2):c.1353_1360del (p.Met452fs)	rs1365019676
NM_004830.4(MED23):c.3545A>C (p.Glu1182Ala)	rs1774628358
NM_014739.3(BCLAF1):c.-114-2_-114-1insC	rs1784536674
NM_015311.3(OBSL1):c.848del (p.Gly283fs)	rs773698181
NM_016098.4(MPC1):c.301C>T (p.His101Tyr)	rs200694745
NM_017622.3(BORCS6):c.326G>C (p.Arg109Pro)	rs561853521
NM_032608.7(MYO18B):c.6671C>A (p.Ala2224Asp)	rs758877751
NM_080722.4(ADAMTS14):c.1318C>T (p.Arg440Cys)	rs141442936

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