ClinVar Miner

List of variants studied for Autism spectrum disorder by Genetics Department, Polish Mother's Memorial Hospital Research Institute

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Total variants: 38
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)
GRCh38/hg38 10p11.21(chr10:34891282-35211554)
GRCh38/hg38 11p15.5(chr11:313988-723647)
GRCh38/hg38 12q24.31(chr12:123141008-123578625)
GRCh38/hg38 14q21.2-21.3(chr14:46402812-47162762)
GRCh38/hg38 15q11.2(chr15:22633497-23084434)
GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)
GRCh38/hg38 16p11.2(chr16:28825316-29028291)
GRCh38/hg38 16p13.11(chr16:15399656-16194269)
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)
GRCh38/hg38 16p13.2(chr16:8937723-10049200)
GRCh38/hg38 17p13.3(chr17:2500691-2687314)
GRCh38/hg38 17q12(chr17:36466109-37946106)
GRCh38/hg38 18p11.21(chr18:12244578-12507815)
GRCh38/hg38 1q31.2-31.3(chr1:193733481-196205927)
GRCh38/hg38 2p16.3(chr2:50590007-50802034)
GRCh38/hg38 2q13(chr2:109301667-110460985)
GRCh38/hg38 3p13(chr3:71518345-71562911)
GRCh38/hg38 4q21.21(chr4:78722180-79522307)
GRCh38/hg38 4q35.2(chr4:187200844-188870692)
GRCh38/hg38 5p13.2(chr5:33977416-34745466)
GRCh38/hg38 5q13.2(chr5:71378409-72329454)
GRCh38/hg38 5q23.1(chr5:119555413-119745470)
GRCh38/hg38 6q15(chr6:88638119-89726639)
GRCh38/hg38 7p15.2(chr7:25988742-26495573)
GRCh38/hg38 7p21.3(chr7:12875659-13231798)
GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)
GRCh38/hg38 7q34(chr7:140901060-141011481)
GRCh38/hg38 7q35(chr7:146320644-146339450)
GRCh38/hg38 Xq24(chrX:119146025-119709342)
GRCh38/hg38 Xq28(chrX:152819425-152869723)
NC_000002.12:g.(?_1852302)_(2191394_?)dup
NC_000002.12:g.(?_50574106)_(50580198_?)del
NC_000003.12:g.(?_175372620)_(176011214_?)del
NC_000007.14:g.(?_148411122)_(148421361_?)dup
NC_000023.11:g.(?_100366731)_(100369616_?)del
NC_000023.11:g.(?_28852188)_(28855815_?)del
NC_000023.11:g.(?_80671287)_(80671570_?)dup

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