ClinVar Miner

List of variants in gene MAN1B1 reported as uncertain significance by Ambry Genetics

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
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.1991C>T (p.Thr664Met) rs200428790 0.00029
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val) rs144767615 0.00024
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.1841G>A (p.Arg614His) rs374247020 0.00014
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.1753G>A (p.Val585Met) rs150734795 0.00009
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.1546G>A (p.Gly516Ser) rs760557104 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.905G>A (p.Gly302Asp) rs777884272 0.00001
NM_016219.5(MAN1B1):c.1001G>T (p.Arg334Leu)
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.1340G>A (p.Ser447Asn)
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.1601C>T (p.Ala534Val)
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.1864G>A (p.Glu622Lys)
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.614T>C (p.Val205Ala)
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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