List of variants reported as uncertain significance 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: 88

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	rs11466023	0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	rs11466024	0.01456
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
NM_000492.4(CFTR):c.-812T>G	rs181008242	0.00375
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00257
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)	rs200631556	0.00090
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	rs150792276	0.00081
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)	rs868906137	0.00073
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	rs138089183	0.00051
NM_003104.6(SORD):c.935C>T (p.Ala312Val)	rs201398152	0.00018
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)	rs200557537	0.00014
NM_001384474.1(LOXHD1):c.6187A>C (p.Thr2063Pro)	rs547733414	0.00011
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	rs200872702	0.00009
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)	rs759032227	0.00008
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)	rs750210485	0.00007
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)	rs375429745	0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	rs62645908	0.00005
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)	rs121912952	0.00004
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)	rs104895202	0.00002
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)	rs587778537	0.00002
NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly)	rs763604611	0.00002
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg)	rs756496949	0.00001
NM_000492.4(CFTR):c.403A>T (p.Thr135Ser)	rs771512600	0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	rs199719668	0.00001
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)
NM_000070.3(CAPN3):c.1123G>A (p.Asp375Asn)
NM_000070.3(CAPN3):c.1508G>C (p.Gly503Ala)
NM_000070.3(CAPN3):c.1659G>C (p.Glu553Asp)
NM_000083.3(CLCN1):c.1251G>A (p.Glu417=)
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu)
NM_000083.3(CLCN1):c.434-2_434dup	rs753470655
NM_000083.3(CLCN1):c.980-3C>G	rs1802714707
NM_000231.3(SGCG):c.386-9A>G
NM_000243.3(MEFV):c.728T>C (p.Leu243Pro)
NM_000334.4(SCN4A):c.4498G>A (p.Gly1500Ser)
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
NM_000426.4(LAMA2):c.8479T>A (p.Tyr2827Asn)
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)	rs373043500
NM_000492.4(CFTR):c.697C>T (p.Leu233Phe)	rs775713428
NM_001031679.3(MSRB3):c.238GTT[1] (p.Val81del)
NM_001031679.3(MSRB3):c.383G>A (p.Cys128Tyr)
NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del)
NM_001048174.2(MUTYH):c.1230C>A (p.His410Gln)
NM_001048174.2(MUTYH):c.1232T>G (p.Leu411Arg)
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter)	rs587782716
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp)	rs761101420
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001101426.4(CRPPA):c.713C>G (p.Thr238Ser)	rs397515409
NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro)	rs2152855991
NM_001130987.2(DYSF):c.5643-15A>G
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001267550.2(TTN):c.16622-3C>G
NM_001278293.3(ARL6):c.505G>T (p.Gly169Cys)
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)	rs886043704
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)	rs764874938
NM_003104.6(SORD):c.306TGA[1] (p.Asp103del)
NM_003104.6(SORD):c.787-3C>G
NM_003193.5(TBCE):c.1491_1491+4dup	rs746593718
NM_003193.5(TBCE):c.786T>G (p.Asn262Lys)
NM_003754.3(EIF3F):c.916C>T (p.Arg306Cys)
NM_003801.4(GPAA1):c.1621C>T (p.Arg541Trp)
NM_004700.4(KCNQ4):c.799T>G (p.Phe267Val)
NM_006005.3(WFS1):c.255A>T (p.Glu85Asp)
NM_006383.4(CIB2):c.47A>G (p.Tyr16Cys)
NM_006946.4(SPTBN2):c.584A>G (p.Asn195Ser)
NM_014053.4(FLVCR1):c.641A>G (p.Gln214Arg)
NM_014053.4(FLVCR1):c.673G>A (p.Ala225Thr)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)	rs139993038
NM_014363.6(SACS):c.827G>A (p.Arg276His)
NM_015340.4(LARS2):c.2608G>T (p.Val870Phe)
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
NM_016194.4(GNB5):c.292A>G (p.Arg98Gly)
NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)	rs773024545
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys)	rs2137933016
NM_025074.7(FRAS1):c.1682G>A (p.Cys561Tyr)
NM_138694.4(PKHD1):c.3192C>A (p.Ser1064Arg)
NM_138694.4(PKHD1):c.6332+3A>C
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
NM_201384.3(PLEC):c.6101G>C (p.Arg2034Pro)
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro)	rs1553252463
NM_213599.3(ANO5):c.1063C>T (p.Leu355Phe)	rs886042583
NM_213599.3(ANO5):c.1201T>G (p.Trp401Gly)
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)

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.