ClinVar Miner

List of variants in gene MAN1B1 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_016219.5(MAN1B1):c.*223G>A rs141959719 0.00488
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016219.5(MAN1B1):c.*393A>G rs575316488 0.00170
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val) rs138411911 0.00135
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965 0.00135
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=) rs144304981 0.00083
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_016219.5(MAN1B1):c.1287C>T (p.His429=) rs145524720 0.00038
NM_016219.5(MAN1B1):c.*292G>A rs145815566 0.00034
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016219.5(MAN1B1):c.2091C>G (p.Thr697=) rs749762302 0.00016
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016219.5(MAN1B1):c.1674G>A (p.Gln558=) rs374793603 0.00012
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
NM_016219.5(MAN1B1):c.1011G>C (p.Gly337=) rs142836717 0.00009
NM_016219.5(MAN1B1):c.621-5C>T rs200585294 0.00009
NM_016219.5(MAN1B1):c.731-4C>T rs368940533 0.00009
NM_016219.5(MAN1B1):c.1065+11T>C rs200147487 0.00007
NM_016219.5(MAN1B1):c.711C>T (p.Ala237=) rs781675627 0.00007
NM_016219.5(MAN1B1):c.1236A>G (p.Thr412=) rs754708614 0.00006
NM_016219.5(MAN1B1):c.1299G>C (p.Gly433=) rs201942029 0.00006
NM_016219.5(MAN1B1):c.1445+10G>A rs200441545 0.00006
NM_016219.5(MAN1B1):c.1765-9C>T rs977693376 0.00006
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.620+9C>T rs535697514 0.00004
NM_016219.5(MAN1B1):c.731-6del rs762904705 0.00004
NM_016219.5(MAN1B1):c.1461C>T (p.Tyr487=) rs373672617 0.00003
NM_016219.5(MAN1B1):c.1827C>T (p.Arg609=) rs201933207 0.00003
NM_016219.5(MAN1B1):c.708G>A (p.Pro236=) rs536127999 0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_016219.5(MAN1B1):c.1255-13C>T rs765403325 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.699C>T (p.Pro233=) rs764332216 0.00002
NM_016219.5(MAN1B1):c.756C>T (p.Gly252=) rs752442068 0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=) rs202157161 0.00002
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1897-10T>C rs1831193942 0.00001
NM_016219.5(MAN1B1):c.1929T>C (p.Asn643=) rs771302082 0.00001
NM_016219.5(MAN1B1):c.1992G>A (p.Thr664=) rs747239978 0.00001
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=) rs150436630 0.00001
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=) rs746212127 0.00001
NM_016219.5(MAN1B1):c.621-4G>A rs747603982 0.00001
NM_016219.5(MAN1B1):c.705A>G (p.Pro235=) rs1342800552 0.00001
NM_016219.5(MAN1B1):c.731-9C>G rs762958294 0.00001
NM_016219.5(MAN1B1):c.858C>T (p.Gly286=) rs1830758562 0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367 0.00001
NM_016219.5(MAN1B1):c.1011G>A (p.Gly337=)
NM_016219.5(MAN1B1):c.1020G>T (p.Leu340=)
NM_016219.5(MAN1B1):c.1029C>T (p.Tyr343=)
NM_016219.5(MAN1B1):c.1050C>G (p.Leu350=)
NM_016219.5(MAN1B1):c.1066-10C>T
NM_016219.5(MAN1B1):c.1066-15C>G
NM_016219.5(MAN1B1):c.1066-18A>G
NM_016219.5(MAN1B1):c.1066-18A>T
NM_016219.5(MAN1B1):c.1084C>T (p.Leu362=)
NM_016219.5(MAN1B1):c.1137C>T (p.Ile379=)
NM_016219.5(MAN1B1):c.1194G>A (p.Val398=) rs2131023045
NM_016219.5(MAN1B1):c.1254+13G>C
NM_016219.5(MAN1B1):c.1254+14C>T
NM_016219.5(MAN1B1):c.1254+15T>C
NM_016219.5(MAN1B1):c.1254+9G>A
NM_016219.5(MAN1B1):c.1255-13C>G
NM_016219.5(MAN1B1):c.1255-4G>A rs201918928
NM_016219.5(MAN1B1):c.1255-9C>T
NM_016219.5(MAN1B1):c.1260A>C (p.Ala420=)
NM_016219.5(MAN1B1):c.1284C>T (p.Ile428=) rs779030233
NM_016219.5(MAN1B1):c.1314G>C (p.Leu438=)
NM_016219.5(MAN1B1):c.1344C>T (p.Gly448=)
NM_016219.5(MAN1B1):c.1347C>T (p.Leu449=)
NM_016219.5(MAN1B1):c.1353C>T (p.Thr451=)
NM_016219.5(MAN1B1):c.1371G>A (p.Thr457=)
NM_016219.5(MAN1B1):c.1377C>T (p.Gly459=)
NM_016219.5(MAN1B1):c.1443A>G (p.Thr481=)
NM_016219.5(MAN1B1):c.1445+15G>A
NM_016219.5(MAN1B1):c.1445+31_1445+79dup rs757502368
NM_016219.5(MAN1B1):c.1445+9C>T
NM_016219.5(MAN1B1):c.1446-10G>C
NM_016219.5(MAN1B1):c.1446-19T>C
NM_016219.5(MAN1B1):c.1446-4A>G
NM_016219.5(MAN1B1):c.1462G>A (p.Val488Met)
NM_016219.5(MAN1B1):c.1488G>C (p.Thr496=)
NM_016219.5(MAN1B1):c.1566+11C>G
NM_016219.5(MAN1B1):c.1566+14C>A
NM_016219.5(MAN1B1):c.1566+15G>A
NM_016219.5(MAN1B1):c.1566+20C>T
NM_016219.5(MAN1B1):c.1567-13C>T
NM_016219.5(MAN1B1):c.1596G>A (p.Thr532=)
NM_016219.5(MAN1B1):c.1603C>T (p.Leu535=)
NM_016219.5(MAN1B1):c.1608C>T (p.Gly536=)
NM_016219.5(MAN1B1):c.1623G>C (p.Leu541=)
NM_016219.5(MAN1B1):c.1707C>T (p.Pro569=)
NM_016219.5(MAN1B1):c.1740G>A (p.Pro580=)
NM_016219.5(MAN1B1):c.1764+14T>C
NM_016219.5(MAN1B1):c.1764+15G>A rs2131131764
NM_016219.5(MAN1B1):c.1764+17G>A
NM_016219.5(MAN1B1):c.1764+2TGGGCC[3]
NM_016219.5(MAN1B1):c.1896+16C>T
NM_016219.5(MAN1B1):c.1896+17G>C
NM_016219.5(MAN1B1):c.1896+8C>T
NM_016219.5(MAN1B1):c.1896+9C>T
NM_016219.5(MAN1B1):c.1897-5C>A
NM_016219.5(MAN1B1):c.1953G>A (p.Glu651=) rs1244821111
NM_016219.5(MAN1B1):c.1992G>T (p.Thr664=)
NM_016219.5(MAN1B1):c.2041C>T (p.Leu681=)
NM_016219.5(MAN1B1):c.220-10C>T
NM_016219.5(MAN1B1):c.220-7C>G
NM_016219.5(MAN1B1):c.220-9C>T
NM_016219.5(MAN1B1):c.329-14C>T
NM_016219.5(MAN1B1):c.375T>C (p.Ile125=)
NM_016219.5(MAN1B1):c.402C>T (p.Pro134=)
NM_016219.5(MAN1B1):c.426G>C (p.Ala142=) rs199738190
NM_016219.5(MAN1B1):c.525A>G (p.Gln175=)
NM_016219.5(MAN1B1):c.540G>A (p.Gly180=)
NM_016219.5(MAN1B1):c.564G>A (p.Arg188=) rs1554752187
NM_016219.5(MAN1B1):c.620+10G>T
NM_016219.5(MAN1B1):c.620+12A>G
NM_016219.5(MAN1B1):c.620+20C>G
NM_016219.5(MAN1B1):c.621-14C>T
NM_016219.5(MAN1B1):c.621-4G>T
NM_016219.5(MAN1B1):c.645T>C (p.Pro215=)
NM_016219.5(MAN1B1):c.708G>C (p.Pro236=) rs536127999
NM_016219.5(MAN1B1):c.730+13C>G
NM_016219.5(MAN1B1):c.730+16C>T
NM_016219.5(MAN1B1):c.730+8C>T
NM_016219.5(MAN1B1):c.731-16C>T
NM_016219.5(MAN1B1):c.731-17T>C rs1164752378
NM_016219.5(MAN1B1):c.731-18CT[2]
NM_016219.5(MAN1B1):c.731-8C>A rs375902720
NM_016219.5(MAN1B1):c.765C>T (p.Asp255=)
NM_016219.5(MAN1B1):c.816C>T (p.Asp272=)
NM_016219.5(MAN1B1):c.879C>T (p.Asp293=)
NM_016219.5(MAN1B1):c.906T>C (p.Gly302=)
NM_016219.5(MAN1B1):c.916+10G>A
NM_016219.5(MAN1B1):c.916+14T>C
NM_016219.5(MAN1B1):c.969C>T (p.Asp323=)

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