ClinVar Miner

List of variants in gene SHANK3 reported as uncertain significance for chromosomal disorder

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.766C>T (p.Arg256Cys) rs1030097250 0.00003
NM_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser) rs1234645097 0.00001
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser) rs368073391 0.00001
NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=) rs753765611 0.00001
NM_001372044.2(SHANK3):c.4600G>A (p.Gly1534Arg) rs1440735830 0.00001
NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys) rs1555905749
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val) rs2124372229
NM_001372044.2(SHANK3):c.1235C>G rs869312715
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.155G>A (p.Gly52Glu)
NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)
NM_001372044.2(SHANK3):c.2300+4_2300+12del
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=) rs1447758824
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro) rs2083272071
NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter) rs2083274586
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu) rs2083276245
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu) rs2082908926
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr) rs1555910078
NM_001372044.2(SHANK3):c.3597C>G (p.Pro1199=)
NM_001372044.2(SHANK3):c.3689C>G (p.Ser1230Cys)
NM_001372044.2(SHANK3):c.3989G>A (p.Arg1330Gln)
NM_001372044.2(SHANK3):c.4052A>C (p.Glu1351Ala)
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del) rs1462066038
NM_001372044.2(SHANK3):c.4150C>T (p.Pro1384Ser) rs1482351235
NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr) rs2082909895
NM_001372044.2(SHANK3):c.4477C>T (p.Leu1493Phe)
NM_001372044.2(SHANK3):c.4613dup (p.Arg1539fs)
NM_001372044.2(SHANK3):c.4730A>G (p.Gln1577Arg)
NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu) rs1329146990
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp) rs2083359701
NM_001372044.2(SHANK3):c.5307_5310del (p.Ile1769fs) rs2083362101
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro) rs1555905307
NM_001372044.2(SHANK3):c.575A>G (p.Lys192Arg)
NM_001372044.2(SHANK3):c.592G>A (p.Val198Ile)
NM_001372044.2(SHANK3):c.623G>A (p.Arg208His)
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)
NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
NM_001372044.2(SHANK3):c.974G>T (p.Gly325Val)

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