ClinVar Miner

List of variants in gene LOC130063650, MAN2B1 studied for Deficiency of alpha-mannosidase

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr) rs747538432 0.00020
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000528.4(MAN2B1):c.28G>A (p.Val10Ile) rs558131886 0.00013
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro) rs199673719 0.00009
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=) rs777286610 0.00009
NM_000528.3(MAN2B1):c.-73G>T rs544325509 0.00004
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240 0.00002
NM_000528.4(MAN2B1):c.64T>C (p.Trp22Arg) rs1329492928 0.00002
NM_000528.4(MAN2B1):c.-19A>G rs886054234 0.00001
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs) rs1290585382 0.00001
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu) rs1170799731 0.00001
NM_000528.4(MAN2B1):c.27G>C (p.Gly9=) rs1428387159 0.00001
NM_000528.4(MAN2B1):c.50A>G (p.Asp17Gly) rs755738320 0.00001
NM_000528.4(MAN2B1):c.51C>T (p.Asp17=) rs747792561 0.00001
NM_000528.4(MAN2B1):c.55G>A (p.Ala19Thr) rs1346520961 0.00001
NM_000528.4(MAN2B1):c.59G>A (p.Gly20Asp) rs1220611493 0.00001
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His) rs1408334891 0.00001
NM_000528.4(MAN2B1):c.75C>G (p.Ser25=) rs1178249579 0.00001
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487 0.00001
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile) rs1471471874 0.00001
NM_000528.4(MAN2B1):c.96C>T (p.Leu32=) rs1253976874 0.00001
NM_000528.4(MAN2B1):c.15G>A (p.Ala5=)
NM_000528.4(MAN2B1):c.15G>C (p.Ala5=)
NM_000528.4(MAN2B1):c.16C>A (p.Arg6=) rs2024256322
NM_000528.4(MAN2B1):c.18G>C (p.Arg6=)
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.24G>C (p.Ser8=) rs2145294761
NM_000528.4(MAN2B1):c.27G>T (p.Gly9=) rs1428387159
NM_000528.4(MAN2B1):c.29T>G (p.Val10Gly) rs1169325876
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys) rs1555710357
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.30C>G (p.Val10=) rs2145294698
NM_000528.4(MAN2B1):c.33C>T (p.Cys11=) rs1599361566
NM_000528.4(MAN2B1):c.39C>A (p.Arg13=) rs537304777
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=) rs537304777
NM_000528.4(MAN2B1):c.46C>T (p.Leu16=)
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs) rs2145294424
NM_000528.4(MAN2B1):c.57A>G (p.Ala19=) rs2024254219
NM_000528.4(MAN2B1):c.5G>T (p.Gly2Val)
NM_000528.4(MAN2B1):c.60C>A (p.Gly20=) rs754783943
NM_000528.4(MAN2B1):c.60C>T (p.Gly20=)
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter) rs2145294443
NM_000528.4(MAN2B1):c.75C>T (p.Ser25=)
NM_000528.4(MAN2B1):c.7G>A (p.Ala3Thr)
NM_000528.4(MAN2B1):c.87G>A (p.Arg29=)
NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)
NM_000528.4(MAN2B1):c.92C>T (p.Pro31Leu)
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs) rs1057516972
NM_000528.4(MAN2B1):c.9C>T (p.Ala3=) rs1228433382
NM_000528.4(MAN2B1):c.9del (p.Tyr4fs) rs2145294851

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