List of variants reported as pathogenic for autosomal recessive disease by MGZ Medical Genetics Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00159
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	rs72653706	0.00122
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00077
NM_005797.4(MPZL2):c.72del (p.Ile24fs)	rs752672077	0.00069
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00051
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	rs137854529	0.00049
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00034
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00034
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	rs113993959	0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	rs75527207	0.00022
NM_000083.3(CLCN1):c.180+3A>T	rs202217420	0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)	rs149095128	0.00018
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	rs371024165	0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	0.00015
NM_001048174.2(MUTYH):c.849+3A>C	rs587780751	0.00013
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	rs111033205	0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	rs74315396	0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	rs104895097	0.00010
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	rs200056620	0.00008
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)	rs61753184	0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A	rs537227442	0.00006
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	rs121913572	0.00004
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)	rs138775799	0.00004
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	rs121908805	0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)	rs768620276	0.00003
NM_003104.6(SORD):c.328C>T (p.Arg110Ter)	rs745509632	0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs)	rs111033204	0.00003
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)	rs772150974	0.00002
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	rs121917744	0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	rs28940877	0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	rs121908955	0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)	rs767000881	0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	rs80356692	0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)	rs111033198	0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	rs28940879	0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)	rs746873768	0.00001
NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln)	rs137853185	0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	rs781368899	0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	rs397518026	0.00001
NM_213599.3(ANO5):c.1119+1G>T	rs762946781	0.00001
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	rs1555421871
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	rs727503837
NM_000070.3(CAPN3):c.717del (p.Phe239fs)	rs776059672
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)	rs759761559
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter)	rs1554434400
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)	rs1131691551
NM_000083.3(CLCN1):c.302-1G>A	rs529377088
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)	rs759873621
NM_000231.3(SGCG):c.525del (p.Phe175fs)	rs786204786
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000277.3(PAH):c.1199+1G>C	rs62509015
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)	rs764771123
NM_000372.5(TYR):c.286dup (p.Met96fs)	rs61753190
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)	rs397508400
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	rs79635528
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	rs120074127
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	rs143353451
NM_001083961.2(WDR62):c.1605dup (p.Glu536Ter)
NM_001128178.3(NPHP1):c.480dup (p.Gly161fs)
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)
NM_001194998.2(CEP152):c.3948_3949insGGCGCAAATATTATTTG (p.Ile1317delinsGlyAlaAsnIleIleTer)
NM_001194998.2(CEP152):c.467dup (p.Gln157fs)	rs1208144689
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)	rs534484592
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)	rs1426009756
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	rs111033401
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)	rs1566067485
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)	rs1589625941
NM_018972.4(GDAP1):c.558del (p.Ile186fs)	rs770658701
NM_018972.4(GDAP1):c.786del (p.Phe263fs)	rs1060500978
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)	rs119456966
NM_024685.4(BBS10):c.271dup (p.Cys91fs)	rs549625604
NM_138694.4(PKHD1):c.3228+1G>T	rs868673401
NM_174916.3(UBR1):c.2379+1G>C
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)	rs1657036615
NM_213599.3(ANO5):c.1627dup (p.Met543fs)	rs281865480
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.