ClinVar Miner

List of variants studied for alpha-mannosidosis by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_000528.4(MAN2B1):c.*100T>G rs886054227
NM_000528.4(MAN2B1):c.*105C>G rs547349667
NM_000528.4(MAN2B1):c.*42G>A rs149101136
NM_000528.4(MAN2B1):c.-19A>G rs886054234
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=) rs886054231
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=) rs745391577
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys) rs142248782
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797
NM_000528.4(MAN2B1):c.630+12G>C rs368271384
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=) rs886054232
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_001173498.1(MAN2B1):c.-73G>T rs544325509

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