ClinVar Miner

List of variants in gene GMPPB studied for Inborn genetic diseases

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser) rs370840899 0.00003
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu) rs1409825474 0.00001
NM_021971.4(GMPPB):c.210G>A (p.Arg70=) rs201795833 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_021971.4(GMPPB):c.84C>A (p.Phe28Leu) rs762117823 0.00001
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_021971.4(GMPPB):c.1058T>C (p.Val353Ala)
NM_021971.4(GMPPB):c.29A>G (p.Tyr10Cys)
NM_021971.4(GMPPB):c.308C>A (p.Pro103His)
NM_021971.4(GMPPB):c.907C>T (p.Leu303Phe) rs2080420731
NM_021971.4(GMPPB):c.951+16G>A
NM_021971.4(GMPPB):c.951+28G>A
NM_021971.4(GMPPB):c.952-22C>A
NM_021971.4(GMPPB):c.966C>G (p.Asn322Lys) rs781114909
NM_021971.4(GMPPB):c.989T>C (p.Val330Ala)

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