ClinVar Miner

List of variants in gene LOC129391064, MAN2B1 studied for carbohydrate metabolism disease

Included ClinVar conditions (301):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.1419+16C>A rs572897959 0.00024
NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys) rs749371047 0.00009
NM_000528.4(MAN2B1):c.1419+11C>A rs375081677 0.00007
NM_000528.4(MAN2B1):c.1345G>A (p.Val449Ile) rs764898305 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 0.00001
NM_000528.4(MAN2B1):c.1419+12G>A rs755497429 0.00001
NM_000528.4(MAN2B1):c.1419+7G>C rs1235244356 0.00001
NM_000528.4(MAN2B1):c.1419+8G>A rs1427796893 0.00001
NC_000019.10:g.(?_12656561)_(12661386_?)del
NM_000528.4(MAN2B1):c.1349G>T (p.Ser450Ile)
NM_000528.4(MAN2B1):c.1350C>A (p.Ser450Arg)
NM_000528.4(MAN2B1):c.1350C>T (p.Ser450=)
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs) rs2145256864
NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=) rs1160056496
NM_000528.4(MAN2B1):c.1358C>A (p.Ser453Tyr) rs864621984
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=)
NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)
NM_000528.4(MAN2B1):c.1362C>T (p.Arg454=) rs2145256884
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter) rs2023996617
NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu) rs864621985
NM_000528.4(MAN2B1):c.1371G>A (p.Val457=) rs1160690876
NM_000528.4(MAN2B1):c.1375_1377del (p.Asn459del)
NM_000528.4(MAN2B1):c.1377C>T (p.Asn459=)
NM_000528.4(MAN2B1):c.1379del (p.Asp460fs)
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=)
NM_000528.4(MAN2B1):c.1386G>C (p.Ala462=) rs1485268011
NM_000528.4(MAN2B1):c.1386G>T (p.Ala462=) rs1485268011
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1389C>T (p.Arg463=)
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter) rs1555708126
NM_000528.4(MAN2B1):c.1395T>C (p.Leu465=)
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1398G>C (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1401A>T (p.Ala467=)
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter) rs2023994563
NM_000528.4(MAN2B1):c.1408G>A (p.Gly470Arg)
NM_000528.4(MAN2B1):c.1410G>A (p.Gly470=)
NM_000528.4(MAN2B1):c.1410G>C (p.Gly470=) rs1382087193
NM_000528.4(MAN2B1):c.1410G>T (p.Gly470=)
NM_000528.4(MAN2B1):c.1419+13A>G
NM_000528.4(MAN2B1):c.1419+16C>T
NM_000528.4(MAN2B1):c.1419+1G>A
NM_000528.4(MAN2B1):c.1419+1G>T
NM_000528.4(MAN2B1):c.1419+20G>A
NM_000528.4(MAN2B1):c.1419+2_1419+15del rs2145256406
NM_000528.4(MAN2B1):c.1419+5G>T rs540367946
NM_000528.4(MAN2B1):c.1419+7G>A
NM_000528.4(MAN2B1):c.1419G>A (p.Glu473=)

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