ClinVar Miner

List of variants in gene TUBE1 reported by Ambry Genetics

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_016262.5(TUBE1):c.511T>G (p.Tyr171Asp) rs187056028 0.00020
NM_016262.5(TUBE1):c.709A>G (p.Lys237Glu) rs149036916 0.00009
NM_016262.5(TUBE1):c.1393G>A (p.Val465Met) rs376384128 0.00003
NM_016262.5(TUBE1):c.776A>G (p.Asn259Ser) rs377330562 0.00003
NM_016262.5(TUBE1):c.1003C>T (p.Arg335Trp) rs782196125 0.00001
NM_016262.5(TUBE1):c.121A>G (p.Ile41Val)
NM_016262.5(TUBE1):c.125G>C (p.Ser42Thr) rs974271072
NM_016262.5(TUBE1):c.1286A>G (p.Tyr429Cys)
NM_016262.5(TUBE1):c.1300G>A (p.Gly434Arg) rs2546932153
NM_016262.5(TUBE1):c.1303A>G (p.Met435Val) rs782541513
NM_016262.5(TUBE1):c.1321A>G (p.Thr441Ala) rs2546932125
NM_016262.5(TUBE1):c.1351A>G (p.Ile451Val) rs782014103
NM_016262.5(TUBE1):c.1387A>G (p.Met463Val)
NM_016262.5(TUBE1):c.1390C>A (p.Pro464Thr) rs2546932023
NM_016262.5(TUBE1):c.13G>A (p.Val5Met) rs1777185155
NM_016262.5(TUBE1):c.192A>G (p.Ile64Met) rs1554317081
NM_016262.5(TUBE1):c.193T>C (p.Cys65Arg) rs141844356
NM_016262.5(TUBE1):c.443G>A (p.Gly148Glu) rs782468172
NM_016262.5(TUBE1):c.707C>T (p.Pro236Leu)
NM_016262.5(TUBE1):c.773T>C (p.Met258Thr)
NM_016262.5(TUBE1):c.898G>A (p.Val300Met) rs184542791
NM_016262.5(TUBE1):c.929C>T (p.Thr310Ile) rs2546934539
NM_016262.5(TUBE1):c.991C>T (p.His331Tyr)

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