ClinVar Miner

List of variants reported as benign for Matthew-Wood syndrome by Invitae

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_022369.4(STRA6):c.1167-10C>G rs2277608 0.19949
NM_022369.4(STRA6):c.331C>T (p.Leu111=) rs11857410 0.15148
NM_022369.4(STRA6):c.1581G>A (p.Met527Ile) rs736118 0.10407
NM_000965.5(RARB):c.306+19G>A rs77748152 0.04069
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_000965.5(RARB):c.1155A>G (p.Ala385=) rs61733682 0.01990
NM_022369.4(STRA6):c.597+9T>G rs28541560 0.01509
NM_022369.4(STRA6):c.1416G>A (p.Ser472=) rs351241 0.00924
NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser) rs145614612 0.00790
NM_022369.4(STRA6):c.173C>T (p.Ser58Leu) rs142105038 0.00787
NM_022369.4(STRA6):c.367G>C (p.Ala123Pro) rs115067613 0.00746
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) rs115331762 0.00660
NM_022369.4(STRA6):c.1840+12C>T rs118056606 0.00660
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875 0.00603
NM_022369.4(STRA6):c.91G>A (p.Gly31Ser) rs111489755 0.00533
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) rs150814749 0.00390
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_022369.4(STRA6):c.946G>A (p.Val316Met) rs150219390 0.00344
NM_022369.4(STRA6):c.1301-12C>T rs79510426 0.00205
NM_022369.4(STRA6):c.993G>A (p.Thr331=) rs116753967 0.00205
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_022369.4(STRA6):c.1836C>T (p.Asp612=) rs142048815 0.00192
NM_022369.4(STRA6):c.1026C>T (p.Ile342=) rs79382990 0.00160
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014 0.00061
NM_000965.5(RARB):c.920A>C (p.Asn307Thr) rs146757345 0.00053
NM_000965.5(RARB):c.768C>T (p.Ala256=) rs115482149 0.00049
NM_000965.5(RARB):c.270G>A (p.Gly90=) rs116825683 0.00036
NM_001001557.4(GDF6):c.921G>C (p.Ala307=) rs545149100 0.00024
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) rs148321868 0.00022
NM_001001557.4(GDF6):c.407-20A>C rs536565151 0.00016
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) rs561421783 0.00007
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) rs368498747 0.00006
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) rs768532556 0.00006
NM_000965.5(RARB):c.960C>A (p.Gly320=) rs775637491 0.00003
NM_000965.5(RARB):c.1316G>C (p.Ser439Thr) rs368432868 0.00002
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg) rs888138096 0.00002
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val) rs988646683 0.00001
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) rs748092776 0.00001
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) rs780167779 0.00001
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp) rs1401531865 0.00001
NM_022369.4(STRA6):c.105G>A (p.Gln35=) rs199782189 0.00001
NM_000965.5(RARB):c.158-9C>G rs78470280
NM_000965.5(RARB):c.991+11T>C
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala) rs121909354
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)
NM_001001557.4(GDF6):c.407-10dup
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) rs1444302456
NM_001001557.4(GDF6):c.980C>A (p.Pro327His) rs121909356
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu) rs1812445302
NM_022369.4(STRA6):c.1167-18C>T
NM_022369.4(STRA6):c.1418+10del rs377631858
NM_022369.4(STRA6):c.1605C>A (p.Leu535=) rs141004067
NM_022369.4(STRA6):c.1685-15G>A rs151148422
NM_022369.4(STRA6):c.431-16T>C
NM_022369.4(STRA6):c.794A>T (p.His265Leu)

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