ClinVar Miner

List of variants in gene MAN2B1 reported as likely pathogenic for not provided

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
GRCh37/hg19 19p13.2(chr19:12757326-12769324)x1
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del) rs779241409
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.436+1G>A rs2145288922
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
Single allele

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