ClinVar Miner

List of variants in gene MAN2B1 reported by GeneDx

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1026+251T>C rs8108316
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) rs563097824
NM_000528.4(MAN2B1):c.1310-22C>T rs73002392
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583
NM_000528.4(MAN2B1):c.1830+138C>T rs8107642
NM_000528.4(MAN2B1):c.1831-158T>G rs4804205
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_000528.4(MAN2B1):c.2046+184A>G rs17476839
NM_000528.4(MAN2B1):c.2267+216A>G rs8102193
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634
NM_000528.4(MAN2B1):c.2267+63A>G rs3815914
NM_000528.4(MAN2B1):c.2355+5C>G rs770412137
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.630+29C>T rs144337367
NM_000528.4(MAN2B1):c.631-213C>T rs8104821
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.910-73A>G rs2303731
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487

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