ClinVar Miner

List of variants reported as uncertain significance for alpha-mannosidosis by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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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.*41C>T
NM_000528.4(MAN2B1):c.*91C>T
NM_000528.4(MAN2B1):c.-19A>G rs886054234
NM_000528.4(MAN2B1):c.1026+8C>T
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
NM_000528.4(MAN2B1):c.1110-15C>G
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=) rs886054231
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=) rs745391577
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716
NM_000528.4(MAN2B1):c.1231-13C>T
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1419+5G>T
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)
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.1713C>T (p.Pro571=) rs747081586
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=)
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000528.4(MAN2B1):c.2268-11C>T
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro)
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
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.2661G>A (p.Thr887=)
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys) rs142248782
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg)
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
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.2883C>A (p.Leu961=)
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=)
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797
NM_000528.4(MAN2B1):c.630+6A>T
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.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=)
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=) rs886054232
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587
NM_001173498.1(MAN2B1):c.-73G>T rs544325509

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