ClinVar Miner

List of variants in gene TUBGCP6 reported as uncertain significance by GeneDx

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00113
NM_020461.4(TUBGCP6):c.1588G>A (p.Glu530Lys) rs150802932 0.00035
NM_020461.4(TUBGCP6):c.3409G>A (p.Val1137Met) rs202000654 0.00016
NM_020461.4(TUBGCP6):c.4357C>T (p.Arg1453Trp) rs200744244 0.00012
NM_020461.4(TUBGCP6):c.3958C>T (p.Arg1320Trp) rs149423531 0.00011
NM_020461.4(TUBGCP6):c.2156G>A (p.Arg719Gln) rs772397375 0.00008
NM_020461.4(TUBGCP6):c.1719C>T (p.Tyr573=) rs201299983 0.00006
NM_020461.4(TUBGCP6):c.1789G>A (p.Val597Ile) rs201914434 0.00006
NM_020461.4(TUBGCP6):c.1851C>T (p.Ser617=) rs375913178 0.00006
NM_020461.4(TUBGCP6):c.2206C>T (p.Arg736Cys) rs139968102 0.00006
NM_020461.4(TUBGCP6):c.1480G>A (p.Ala494Thr) rs746643141 0.00004
NM_020461.4(TUBGCP6):c.5389C>T (p.Arg1797Cys) rs138609686 0.00004
NM_020461.4(TUBGCP6):c.1100C>T (p.Thr367Met) rs750083119 0.00003
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly) rs368449236 0.00003
NM_020461.4(TUBGCP6):c.5392G>A (p.Gly1798Ser) rs150137904 0.00003
NM_020461.4(TUBGCP6):c.3071G>A (p.Arg1024Gln) rs371211872 0.00002
NM_020461.4(TUBGCP6):c.1492-9G>A rs765557133 0.00001
NM_020461.4(TUBGCP6):c.1832G>A (p.Arg611Gln) rs367933636 0.00001
NM_020461.4(TUBGCP6):c.2320C>T (p.Arg774Trp) rs144692967 0.00001
NM_020461.4(TUBGCP6):c.2949G>T (p.Gln983His) rs779997297 0.00001
NM_020461.4(TUBGCP6):c.3440A>C (p.Asn1147Thr) rs1085307476 0.00001
NM_020461.4(TUBGCP6):c.4220C>T (p.Ser1407Leu) rs557453599 0.00001
NM_020461.4(TUBGCP6):c.4333C>T (p.His1445Tyr) rs1258201672 0.00001
NM_020461.4(TUBGCP6):c.5242C>T (p.Arg1748Cys) rs539568209 0.00001
NM_020461.4(TUBGCP6):c.5444A>C (p.Tyr1815Ser) rs2064438990 0.00001
NM_020461.4(TUBGCP6):c.5446T>C (p.Tyr1816His) rs776207916 0.00001
NM_020461.4(TUBGCP6):c.1852G>A (p.Asp618Asn)
NM_020461.4(TUBGCP6):c.1868G>A (p.Arg623Gln)
NM_020461.4(TUBGCP6):c.2038G>T (p.Ala680Ser) rs2147185460
NM_020461.4(TUBGCP6):c.2240C>T (p.Ser747Phe) rs2147184677
NM_020461.4(TUBGCP6):c.2425G>A (p.Val809Met)
NM_020461.4(TUBGCP6):c.2665C>A (p.Pro889Thr)
NM_020461.4(TUBGCP6):c.301T>C (p.Cys101Arg)
NM_020461.4(TUBGCP6):c.3289G>A (p.Val1097Met) rs561886849
NM_020461.4(TUBGCP6):c.4202G>A (p.Gly1401Asp) rs2147175372
NM_020461.4(TUBGCP6):c.4218_4232dup (p.Ser1407_Ala1411dup) rs761225850
NM_020461.4(TUBGCP6):c.4322C>G (p.Pro1441Arg) rs201730639
NM_020461.4(TUBGCP6):c.4322C>T (p.Pro1441Leu) rs201730639
NM_020461.4(TUBGCP6):c.4741T>C (p.Ser1581Pro) rs2147172823
NM_020461.4(TUBGCP6):c.4839C>G (p.Asn1613Lys)
NM_020461.4(TUBGCP6):c.4981G>A (p.Val1661Met)
NM_020461.4(TUBGCP6):c.5155A>G (p.Lys1719Glu)
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys) rs374204240
NM_020461.4(TUBGCP6):c.5425C>T (p.Arg1809Cys)
NM_020461.4(TUBGCP6):c.788C>G (p.Ala263Gly) rs745791632
NM_020461.4(TUBGCP6):c.934C>G (p.Leu312Val) rs1317808663
NM_020461.4(TUBGCP6):c.944C>T (p.Ala315Val)

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