ClinVar Miner

List of variants in gene combination LOC130063650, MAN2B1 reported as likely benign for developmental defect during embryogenesis

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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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.27G>C (p.Gly9=) rs1428387159 0.00001
NM_000528.4(MAN2B1):c.51C>T (p.Asp17=) rs747792561 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.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.24G>C (p.Ser8=) rs2145294761
NM_000528.4(MAN2B1):c.27G>T (p.Gly9=) rs1428387159
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.57A>G (p.Ala19=) rs2024254219
NM_000528.4(MAN2B1):c.60C>A (p.Gly20=) rs754783943
NM_000528.4(MAN2B1):c.60C>T (p.Gly20=)
NM_000528.4(MAN2B1):c.75C>T (p.Ser25=)
NM_000528.4(MAN2B1):c.87G>A (p.Arg29=)
NM_000528.4(MAN2B1):c.9C>T (p.Ala3=) rs1228433382

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