List of variants in gene combination LOC129391064, MAN2B1 reported as likely benign for Deficiency of alpha-mannosidase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000528.4(MAN2B1):c.1419+11C>A	rs375081677	0.00007
NM_000528.4(MAN2B1):c.1410G>A (p.Gly470=)	rs1382087193	0.00001
NM_000528.4(MAN2B1):c.1419+12G>A	rs755497429	0.00001
NM_000528.4(MAN2B1):c.1419+13A>G	rs752055524	0.00001
NM_000528.4(MAN2B1):c.1419+7G>C	rs1235244356	0.00001
NM_000528.4(MAN2B1):c.1419+8G>A	rs1427796893	0.00001
NM_000528.4(MAN2B1):c.1344C>T (p.Ala448=)
NM_000528.4(MAN2B1):c.1350C>T (p.Ser450=)	rs1237022008
NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=)	rs1160056496
NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=)	rs1599350780
NM_000528.4(MAN2B1):c.1362C>T (p.Arg454=)	rs2145256884
NM_000528.4(MAN2B1):c.1371G>A (p.Val457=)	rs1160690876
NM_000528.4(MAN2B1):c.1371G>C (p.Val457=)
NM_000528.4(MAN2B1):c.1377C>T (p.Asn459=)	rs1258176012
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)	rs775200333
NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=)	rs1485268011
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.1389C>T (p.Arg463=)	rs1283210951
NM_000528.4(MAN2B1):c.1395T>C (p.Leu465=)	rs2512501428
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=)	rs1314080939
NM_000528.4(MAN2B1):c.1410G>C (p.Gly470=)	rs1382087193
NM_000528.4(MAN2B1):c.1410G>T (p.Gly470=)	rs1382087193
NM_000528.4(MAN2B1):c.1419+16C>T	rs572897959
NM_000528.4(MAN2B1):c.1419+20G>A	rs2512501252
NM_000528.4(MAN2B1):c.1419+7G>A	rs1235244356
NM_000528.4(MAN2B1):c.1419+9G>T

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