ClinVar Miner

List of variants studied for oligosaccharidosis by Revvity Omics, Revvity

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro) rs199673719 0.00009
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) rs374377679 0.00002
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000434.4(NEU1):c.238C>A (p.Pro80Thr) rs1762543434 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val) rs775701916 0.00001
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile) rs202100945 0.00001
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup) rs756742678
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000308.4(CTSA):c.1104dup (p.Gln369fs) rs2083116648
NM_000434.4(NEU1):c.539C>G (p.Ser180Cys)
NM_000434.4(NEU1):c.947del (p.Pro316fs) rs2151544098
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1422TCT[1] (p.Leu476del)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.262+1G>C rs2145290458
NM_000528.4(MAN2B1):c.2674C>A (p.Leu892Met)
NM_000528.4(MAN2B1):c.763G>C (p.Gly255Arg)
NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)
NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln)
NM_005908.4(MANBA):c.177+2T>C rs779221957

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