List of variants reported as pathogenic for autosomal recessive disease by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 103

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00034
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.1066-11G>A	rs5030855	0.00028
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	rs121913578	0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	rs111033307	0.00008
NM_000492.4(CFTR):c.2657+5G>A	rs80224560	0.00006
NM_022464.5(SIL1):c.1030-9G>A	rs370290043	0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	rs121908073	0.00006
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)	rs397514753	0.00005
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)	rs760956030	0.00004
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter)	rs373278668	0.00004
NM_000277.3(PAH):c.464G>A (p.Arg155His)	rs199475663	0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His)	rs62642939	0.00003
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)	rs779823379	0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	rs202033121	0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A	rs587777152	0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)	rs775081992	0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000277.3(PAH):c.441+5G>T	rs62507321	0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met)	rs370340361	0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)	rs766199971	0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	rs61750422	0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	rs121909005	0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)	rs779858591	0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)	rs398123789	0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)	rs751734985	0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)	rs138358708	0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)	rs762607878	0.00001
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)	rs773690764	0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)	rs766629205	0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)	rs764260054	0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)	rs121964994	0.00001
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter)	rs748555538	0.00001
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)	rs137852920	0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)	rs199422168	0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)	rs587783275	0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)	rs397509417	0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)	rs111033349	0.00001
NM_206933.4(USH2A):c.5776+1G>A	rs876657731	0.00001
NM_000057.4(BLM):c.175_176del (p.Val59fs)	rs2151146787
NM_000067.3(CA2):c.232+1G>A	rs573750741
NM_000070.3(CAPN3):c.801+1G>A	rs1459288402
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)	rs111033403
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)	rs281865442
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)	rs62507323
NM_000317.3(PTS):c.342C>G (p.Ile114Met)	rs17851590
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)	rs778760498
NM_000372.5(TYR):c.1322del (p.Ser441fs)
NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)	rs727503428
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)	rs1791439311
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)	rs75389940
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)	rs121908808
NM_000492.4(CFTR):c.416A>T (p.His139Leu)	rs76371115
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)	rs1645371113
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)	rs121434348
NM_001134831.2(AHI1):c.2037-1G>C	rs1784918128
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)	rs863225146
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)	rs1203487591
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter)	rs786205595
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)	rs770279237
NM_001206999.2(CIT):c.1111+1G>A	rs879255522
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)	rs2154244761
NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter)	rs1183090232
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	rs61752138
NM_001378454.1(ALMS1):c.11873-2A>T	rs786205527
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)	rs376244626
NM_001378615.1(CC2D2A):c.4437+1G>A	rs786205568
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg)	rs781838938
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	rs1028534806
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)	rs587777534
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser)	rs2142400070
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)	rs730882242
NM_005422.4(TECTA):c.4690-1G>A
NM_005529.7(HSPG2):c.11208-7G>A	rs1336552092
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)	rs753679297
NM_006984.5(CLDN10):c.653del (p.Pro218fs)	rs2043960821
NM_012233.3(RAB3GAP1):c.2710-1G>A
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs)	rs794727287
NM_014168.4(METTL5):c.224+1G>A
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)	rs2118494165
NM_015028.4(TNIK):c.538C>T (p.Arg180Ter)	rs886037841
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter)	rs549138385
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)	rs587783215
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)	rs587783287
NM_018249.6(CDK5RAP2):c.3851T>A (p.Leu1284Ter)
NM_018451.5(CENPJ):c.3302-1G>C	rs864321658
NM_018699.4(PRDM5):c.93+2T>C	rs1579259095
NM_020632.3(ATP6V0A4):c.292-1G>A	rs776867749
NM_020680.4(SCYL1):c.1386+1G>T	rs201581270
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)	rs786205483
NM_024649.5(BBS1):c.124+1G>A	rs1057516449
NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met)	rs1057517688
NM_033028.5(BBS4):c.157-2A>G	rs113994192
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs)	rs2128143028
NM_153676.4(USH1C):c.2380+1G>C	rs1060499916
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)	rs752728823
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
NM_206933.4(USH2A):c.486-1G>C	rs876657730

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