ClinVar Miner

List of variants in gene SHANK1 reported as benign for not provided

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_016148.5(SHANK1):c.1554-4G>A rs112798540 0.01720
NM_016148.5(SHANK1):c.793-8G>A rs116024680 0.01580
NM_016148.5(SHANK1):c.1207C>A (p.Arg403=) rs10419507 0.01471
NM_016148.5(SHANK1):c.6288G>A (p.Gly2096=) rs10422259 0.01466
NM_016148.5(SHANK1):c.4847C>A (p.Thr1616Asn) rs144762908 0.01172
NM_016148.5(SHANK1):c.5133G>T (p.Gly1711=) rs186659978 0.00796
NM_016148.5(SHANK1):c.1890C>T (p.Leu630=) rs116658867 0.00706
NM_016148.5(SHANK1):c.1993T>C (p.Leu665=) rs116996922 0.00456
NM_016148.5(SHANK1):c.1665C>T (p.Pro555=) rs146391723 0.00429
NM_016148.5(SHANK1):c.5387G>A (p.Gly1796Glu) rs200473891 0.00377
NM_016148.5(SHANK1):c.6271G>T (p.Gly2091Cys) rs148157051 0.00257
NM_016148.5(SHANK1):c.582G>A (p.Lys194=) rs111292432 0.00245
NM_016148.5(SHANK1):c.4650C>T (p.Pro1550=) rs145013267 0.00235
NM_016148.5(SHANK1):c.795G>A (p.Ala265=) rs35701530 0.00132
NM_016148.5(SHANK1):c.5070C>T (p.Thr1690=) rs375795144 0.00113
NM_016148.5(SHANK1):c.669C>T (p.Thr223=) rs3745531 0.00067
NM_016148.5(SHANK1):c.1938-5G>T rs377428098 0.00061
NM_016148.5(SHANK1):c.1008C>T (p.Tyr336=) rs114410784 0.00052
NM_016148.5(SHANK1):c.5886C>T (p.Ala1962=) rs573808764 0.00040
NM_016148.5(SHANK1):c.4415G>T (p.Gly1472Val) rs199651052 0.00028
NM_016148.5(SHANK1):c.1965-81G>A
NM_016148.5(SHANK1):c.2048-8G>T
NM_016148.5(SHANK1):c.2112G>C (p.Ser704=) rs144053654
NM_016148.5(SHANK1):c.4443C>T (p.Ala1481=)

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