ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease dominant intermediate f

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Total variants: 41
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HGVS dbSNP
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NM_021629.3(GNB4):c.58-8dupT rs112500963
NM_021629.3(GNB4):c.917-4delT rs764075662
NM_021629.4(GNB4):c.107A>T (p.Asn36Ile)
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) rs387907340
NM_021629.4(GNB4):c.16C>G (p.Gln6Glu) rs1163990709
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652
NM_021629.4(GNB4):c.195C>T (p.Tyr65=) rs768164095
NM_021629.4(GNB4):c.196G>A (p.Asp66Asn) rs864622729
NM_021629.4(GNB4):c.204-4C>G rs377746889
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.4(GNB4):c.243T>C (p.Ile81=) rs200696108
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) rs387907341
NM_021629.4(GNB4):c.27A>G (p.Gln9=) rs376598495
NM_021629.4(GNB4):c.429A>G (p.Thr143=)
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln)
NM_021629.4(GNB4):c.48T>C (p.Asn16=) rs1078749
NM_021629.4(GNB4):c.574T>G (p.Leu192Val)
NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr)
NM_021629.4(GNB4):c.598G>A (p.Val200Ile)
NM_021629.4(GNB4):c.659A>G (p.Gln220Arg) rs199615251
NM_021629.4(GNB4):c.699+10T>C rs1433602623
NM_021629.4(GNB4):c.700-3T>C
NM_021629.4(GNB4):c.714A>G (p.Gly238=) rs1433615086
NM_021629.4(GNB4):c.759T>G (p.Phe253Leu)
NM_021629.4(GNB4):c.771A>G (p.Ala257=) rs878855069
NM_021629.4(GNB4):c.783_785ATT[1] (p.Leu263del) rs771274313
NM_021629.4(GNB4):c.799G>A (p.Asp267Asn) rs752762550
NM_021629.4(GNB4):c.848G>C (p.Arg283Pro) rs186593898
NM_021629.4(GNB4):c.84A>C (p.Ala28=) rs770125763
NM_021629.4(GNB4):c.853T>G (p.Leu285Val) rs554623238
NM_021629.4(GNB4):c.86C>T (p.Thr29Met)
NM_021629.4(GNB4):c.903A>T (p.Lys301Asn) rs1167931862
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala)
NM_021629.4(GNB4):c.910C>T (p.Arg304Cys)
NM_021629.4(GNB4):c.911G>A (p.Arg304His)
NM_021629.4(GNB4):c.916+9A>G rs376068792
NM_021629.4(GNB4):c.923T>C (p.Leu308Pro) rs1168008697
NM_021629.4(GNB4):c.939_940del (p.Asn313fs) rs1560208074
NM_021629.4(GNB4):c.958G>A (p.Val320Ile) rs61750380
NM_021629.4(GNB4):c.96+9T>C rs1222924595

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