ClinVar Miner

List of variants in gene TRIP12 reported by Ambry Genetics

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.1181G>A (p.Arg394Gln) rs141163529 0.00005
NM_001348323.3(TRIP12):c.4117A>G (p.Ile1373Val) rs199688160 0.00002
NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr) rs539119124 0.00001
NM_001348323.3(TRIP12):c.1013A>G (p.Gln338Arg)
NM_001348323.3(TRIP12):c.1078C>G (p.Pro360Ala)
NM_001348323.3(TRIP12):c.1123G>A (p.Ala375Thr)
NM_001348323.3(TRIP12):c.1165G>A (p.Ala389Thr)
NM_001348323.3(TRIP12):c.1240C>G (p.Arg414Gly) rs200117340
NM_001348323.3(TRIP12):c.1823C>T (p.Ala608Val)
NM_001348323.3(TRIP12):c.1885G>T (p.Ala629Ser)
NM_001348323.3(TRIP12):c.1916G>A (p.Ser639Asn)
NM_001348323.3(TRIP12):c.1954C>T (p.Leu652Phe)
NM_001348323.3(TRIP12):c.2162G>A (p.Arg721His)
NM_001348323.3(TRIP12):c.2273G>A (p.Cys758Tyr)
NM_001348323.3(TRIP12):c.2335A>G (p.Ile779Val)
NM_001348323.3(TRIP12):c.242C>A (p.Ser81Tyr) rs2060137211
NM_001348323.3(TRIP12):c.262C>G (p.Pro88Ala)
NM_001348323.3(TRIP12):c.2639A>G (p.Asn880Ser) rs201776333
NM_001348323.3(TRIP12):c.2887G>A (p.Ala963Thr)
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.3650T>C (p.Val1217Ala)
NM_001348323.3(TRIP12):c.3984_3985del (p.Gly1329fs) rs1553610329
NM_001348323.3(TRIP12):c.4048G>C (p.Asp1350His)
NM_001348323.3(TRIP12):c.4215+4A>G
NM_001348323.3(TRIP12):c.4330C>G (p.Gln1444Glu)
NM_001348323.3(TRIP12):c.4415+5G>A rs2041634150
NM_001348323.3(TRIP12):c.4495A>G (p.Thr1499Ala)
NM_001348323.3(TRIP12):c.4654G>A (p.Val1552Ile)
NM_001348323.3(TRIP12):c.4684T>C (p.Tyr1562His)
NM_001348323.3(TRIP12):c.4734T>G (p.Phe1578Leu)
NM_001348323.3(TRIP12):c.486del (p.Gln162fs) rs1553704696
NM_001348323.3(TRIP12):c.5053G>A (p.Gly1685Ser)
NM_001348323.3(TRIP12):c.5191_5194del (p.Thr1731fs) rs1553591922
NM_001348323.3(TRIP12):c.521A>G (p.Lys174Arg)
NM_001348323.3(TRIP12):c.5296G>A (p.Ala1766Thr)
NM_001348323.3(TRIP12):c.5449G>A (p.Asp1817Asn)
NM_001348323.3(TRIP12):c.5905_5908delinsATATGGTATATTTACTT (p.Arg1969fs)
NM_001348323.3(TRIP12):c.6007G>A (p.Gly2003Arg)
NM_001348323.3(TRIP12):c.6014G>A (p.Arg2005Gln)
NM_001348323.3(TRIP12):c.6164T>A (p.Ile2055Lys)
NM_001348323.3(TRIP12):c.799G>C (p.Gly267Arg)
NM_001348323.3(TRIP12):c.805G>A (p.Asp269Asn)
NM_001348323.3(TRIP12):c.836C>T (p.Ala279Val)
NM_001348323.3(TRIP12):c.88A>G (p.Ile30Val)
NM_001348323.3(TRIP12):c.952A>G (p.Lys318Glu)
NM_001348323.3(TRIP12):c.964C>A (p.Pro322Thr)
NM_001348323.3(TRIP12):c.97A>G (p.Arg33Gly)

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