ClinVar Miner

List of variants reported as uncertain significance for intellectual developmental disorder, autosomal dominant 63, with macrocephaly

Included ClinVar conditions (2):
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.5989G>A (p.Ala1997Thr) rs114451941 0.00040
NM_007118.4(TRIO):c.9277C>T (p.Leu3093Phe) rs145985294 0.00039
NM_007118.4(TRIO):c.8120G>A (p.Arg2707Gln) rs768858988 0.00005
NM_007118.4(TRIO):c.8027A>G (p.Asn2676Ser) rs150431198 0.00003
NM_007118.4(TRIO):c.5945G>A (p.Arg1982His) rs780065387 0.00002
NM_007118.4(TRIO):c.1319G>A (p.Arg440Gln) rs1398653793 0.00001
NM_007118.4(TRIO):c.3559A>G (p.Ile1187Val) rs950757813 0.00001
NM_007118.4(TRIO):c.53C>G (p.Ala18Gly) rs1429556466 0.00001
NM_007118.4(TRIO):c.7250G>A (p.Ser2417Asn) rs927883781 0.00001
NM_007118.4(TRIO):c.7264G>A (p.Ala2422Thr) rs1469803121 0.00001
NM_007118.4(TRIO):c.80G>T (p.Gly27Val) rs1188365621 0.00001
NM_007118.4(TRIO):c.8686C>A (p.Leu2896Met) rs1422150009 0.00001
NM_007118.4(TRIO):c.1211T>C (p.Val404Ala)
NM_007118.4(TRIO):c.2046+6G>T rs1741451308
NM_007118.4(TRIO):c.2344C>A (p.Leu782Met)
NM_007118.4(TRIO):c.2804T>C (p.Ile935Thr)
NM_007118.4(TRIO):c.3242C>T (p.Ala1081Val)
NM_007118.4(TRIO):c.3406C>A (p.Gln1136Lys)
NM_007118.4(TRIO):c.3931C>G (p.Leu1311Val)
NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met) rs2152389359
NM_007118.4(TRIO):c.5003C>T (p.Thr1668Ile)
NM_007118.4(TRIO):c.5333C>T (p.Thr1778Ile)
NM_007118.4(TRIO):c.5947G>A (p.Asp1983Asn)
NM_007118.4(TRIO):c.6181T>G (p.Tyr2061Asp)
NM_007118.4(TRIO):c.6955_6975dup (p.Ser2325_Ser2326insGlyHisSerGlyGlyProSer)
NM_007118.4(TRIO):c.6967_6978dup (p.Ser2326_Cys2327insGlyProSerSer)
NM_007118.4(TRIO):c.7001G>C (p.Ser2334Thr) rs375274497
NM_007118.4(TRIO):c.7115C>G (p.Pro2372Arg)
NM_007118.4(TRIO):c.7156G>C (p.Gly2386Arg) rs761969823
NM_007118.4(TRIO):c.7436T>A (p.Leu2479Gln)
NM_007118.4(TRIO):c.8019+6T>G rs2126677662
NM_007118.4(TRIO):c.8159G>A (p.Gly2720Asp)
NM_007118.4(TRIO):c.968A>G (p.Gln323Arg) rs777932649

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