ClinVar Miner

List of variants in gene GNB4 reported as benign for Charcot-Marie-Tooth disease dominant intermediate F

Included ClinVar conditions (1):
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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_021629.4(GNB4):c.-42-410T>A rs6443648 0.51577
NM_021629.4(GNB4):c.117T>C (p.Ser39=) rs1362650 0.46787
NM_021629.4(GNB4):c.48T>C (p.Asn16=) rs1078749 0.03507
NM_021629.4(GNB4):c.958G>A (p.Val320Ile) rs61750380 0.00362
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652 0.00155
NM_021629.4(GNB4):c.243T>C (p.Ile81=) rs200696108 0.00037
NM_021629.4(GNB4):c.203+13C>G rs371162080 0.00036
NM_021629.4(GNB4):c.916+10_916+11insG rs537195612 0.00034
NM_021629.4(GNB4):c.430+7T>G rs758969360 0.00006
NM_021629.4(GNB4):c.6C>T (p.Ser2=) rs369560167 0.00006
NM_021629.4(GNB4):c.268-4A>G rs566002899
NM_021629.4(GNB4):c.58-14dup rs112500963
NM_021629.4(GNB4):c.917-4del rs764075662

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