ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of alpha-mannosidase by Counsyl

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225 0.00003
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000528.4(MAN2B1):c.1645-2A>T rs891030696 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.1026+2T>C rs369099686
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) rs1057516524
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter) rs1555708126
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.159+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2047-1G>A rs1057517166
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.2165+1del rs1555706752
NM_000528.4(MAN2B1):c.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2436+1G>A rs200036864
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
NM_000528.4(MAN2B1):c.446del (p.Glu149fs) rs1057516682
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs) rs1057516972

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