ClinVar Miner

List of variants in gene MAN1B1 studied for Inborn genetic diseases

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=) rs12000048 0.00411
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
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.635T>G (p.Val212Gly) rs186504463 0.00134
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
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.1744C>T (p.Arg582Cys) rs142406504 0.00046
NM_016219.5(MAN1B1):c.1287C>T (p.His429=) rs145524720 0.00038
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met) rs200428790 0.00029
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val) rs144767615 0.00024
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016219.5(MAN1B1):c.514C>T (p.Pro172Ser) rs142144025 0.00016
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) rs374247020 0.00014
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.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys) rs373430024 0.00011
NM_016219.5(MAN1B1):c.1295C>G (p.Ser432Cys) rs774832284 0.00010
NM_016219.5(MAN1B1):c.1011G>C (p.Gly337=) rs142836717 0.00009
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met) rs150734795 0.00009
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile) rs199561708 0.00005
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys) rs757690679 0.00004
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=) rs558619741 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.1288G>A (p.Gly430Ser) rs199553033 0.00003
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile) rs763074368 0.00003
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs) rs1382373816 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.1546G>A (p.Gly516Ser) rs760557104 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.756C>T (p.Gly252=) rs752442068 0.00002
NM_016219.5(MAN1B1):c.1565T>C (p.Met522Thr) rs764475116 0.00001
NM_016219.5(MAN1B1):c.1687A>G (p.Met563Val) rs770987752 0.00001
NM_016219.5(MAN1B1):c.1992G>A (p.Thr664=) rs747239978 0.00001
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp) rs777884272 0.00001
NM_016219.5(MAN1B1):c.1001G>T (p.Arg334Leu)
NM_016219.5(MAN1B1):c.1017C>A (p.Leu339=)
NM_016219.5(MAN1B1):c.1044C>T (p.Asp348=)
NM_016219.5(MAN1B1):c.1054C>T (p.Leu352=)
NM_016219.5(MAN1B1):c.1124C>T (p.Ser375Leu)
NM_016219.5(MAN1B1):c.1142C>T (p.Thr381Ile) rs1564284831
NM_016219.5(MAN1B1):c.1162C>T (p.Arg388Trp)
NM_016219.5(MAN1B1):c.1163G>A (p.Arg388Gln)
NM_016219.5(MAN1B1):c.1258G>T (p.Ala420Ser)
NM_016219.5(MAN1B1):c.1286A>G (p.His429Arg)
NM_016219.5(MAN1B1):c.1295C>T (p.Ser432Phe) rs774832284
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu) rs774769293
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
NM_016219.5(MAN1B1):c.1340G>A (p.Ser447Asn)
NM_016219.5(MAN1B1):c.1371G>A (p.Thr457=)
NM_016219.5(MAN1B1):c.1390A>G (p.Ser464Gly)
NM_016219.5(MAN1B1):c.1394A>G (p.Tyr465Cys) rs1564311870
NM_016219.5(MAN1B1):c.1446-5C>T
NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln) rs775259244
NM_016219.5(MAN1B1):c.1487C>T (p.Thr496Met)
NM_016219.5(MAN1B1):c.1534G>A (p.Glu512Lys)
NM_016219.5(MAN1B1):c.1543C>T (p.His515Tyr)
NM_016219.5(MAN1B1):c.1544A>G (p.His515Arg)
NM_016219.5(MAN1B1):c.1596G>A (p.Thr532=)
NM_016219.5(MAN1B1):c.1601C>T (p.Ala534Val)
NM_016219.5(MAN1B1):c.1603C>T (p.Leu535=)
NM_016219.5(MAN1B1):c.1609G>A (p.Val537Ile)
NM_016219.5(MAN1B1):c.1618G>A (p.Gly540Ser)
NM_016219.5(MAN1B1):c.1627G>A (p.Ala543Thr)
NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)
NM_016219.5(MAN1B1):c.1694C>T (p.Thr565Met)
NM_016219.5(MAN1B1):c.1696G>C (p.Gly566Arg)
NM_016219.5(MAN1B1):c.1707C>G (p.Pro569=)
NM_016219.5(MAN1B1):c.1864G>A (p.Glu622Lys)
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=) rs114484315
NM_016219.5(MAN1B1):c.1953G>A (p.Glu651=) rs1244821111
NM_016219.5(MAN1B1):c.2039G>C (p.Ser680Thr)
NM_016219.5(MAN1B1):c.2092C>G (p.Pro698Ala)
NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)
NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)
NM_016219.5(MAN1B1):c.328G>T (p.Ala110Ser)
NM_016219.5(MAN1B1):c.331C>G (p.Leu111Val)
NM_016219.5(MAN1B1):c.346G>C (p.Glu116Gln)
NM_016219.5(MAN1B1):c.458C>T (p.Ser153Leu)
NM_016219.5(MAN1B1):c.614T>C (p.Val205Ala)
NM_016219.5(MAN1B1):c.620+1del rs1564278864
NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)
NM_016219.5(MAN1B1):c.640G>A (p.Glu214Lys)
NM_016219.5(MAN1B1):c.649C>G (p.Gln217Glu)
NM_016219.5(MAN1B1):c.730+5G>C
NM_016219.5(MAN1B1):c.793C>T (p.Arg265Cys)
NM_016219.5(MAN1B1):c.797A>T (p.Lys266Met)
NM_016219.5(MAN1B1):c.876C>G (p.Ile292Met)
NM_016219.5(MAN1B1):c.949A>G (p.Lys317Glu)
NM_016219.5(MAN1B1):c.956A>G (p.His319Arg)
NM_016219.5(MAN1B1):c.969C>G (p.Asp323Glu)

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