ClinVar Miner

List of variants in gene TRIO reported as benign for intellectual developmental disorder, autosomal dominant 63, with macrocephaly

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.5100A>C (p.Thr1700=) rs30612 0.88742
NM_007118.4(TRIO):c.5497-48C>T rs27100 0.52401
NM_007118.4(TRIO):c.541-20G>A rs30629 0.44690
NM_007118.4(TRIO):c.4398T>C (p.Asp1466=) rs30774 0.42642
NM_007118.4(TRIO):c.4311+44G>A rs256412 0.31735
NM_007118.4(TRIO):c.3033C>T (p.Asn1011=) rs13189406 0.22131
NM_007118.4(TRIO):c.5203+20G>A rs56207939 0.17811
NM_007118.4(TRIO):c.4020C>T (p.Ile1340=) rs7715916 0.10797
NM_007118.4(TRIO):c.3882-36C>G rs11949756 0.10757
NM_007118.4(TRIO):c.3332-33C>T rs10866507 0.10407
NM_007118.4(TRIO):c.5523C>T (p.Ser1841=) rs17500731 0.01857
NM_007118.4(TRIO):c.6154-47G>A rs62345860 0.01662
NM_007118.4(TRIO):c.5496+34G>A rs62345056 0.00304

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