ClinVar Miner

List of variants studied for partial deletion of the short arm of chromosome 16

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro) rs142515048 0.00039
16p11.2 recurrent region (BP4-BP5)
GRCh37/hg19 16p11.2(chr16:28349949-29342589)
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3
GRCh37/hg19 16p11.2(chr16:28529940-28906458)
GRCh37/hg19 16p11.2(chr16:28689085-29051191)
GRCh37/hg19 16p11.2(chr16:28734571-29043450)
GRCh37/hg19 16p11.2(chr16:28784627-29230353)x1
GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1
GRCh37/hg19 16p11.2(chr16:29042050-30199025)
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3
GRCh37/hg19 16p11.2(chr16:29567295-30178406)
GRCh37/hg19 16p11.2(chr16:29580020-30177916)
GRCh37/hg19 16p11.2(chr16:29580020-30177999)
GRCh37/hg19 16p11.2(chr16:29595483-30199713)
GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1
GRCh37/hg19 16p11.2(chr16:29673203-30133233)
GRCh37/hg19 16p11.2(chr16:29673203-30199713)
GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1
GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1
GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3
GRCh37/hg19 16p11.2(chr16:29678569-30199402)
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1
GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1
GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1
GRCh37/hg19 16p12.2(chr16:21801889-22431357)
GRCh37/hg19 16p12.2(chr16:21801889-22710614)
GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1
GRCh37/hg19 16p12.2(chr16:21884192-22288219)
GRCh37/hg19 16p12.2(chr16:21943463-22702769)
GRCh37/hg19 16p12.2(chr16:21964083-22386845)
GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1
GRCh37/hg19 16p12.2(chr16:21973828-22361172)
GRCh37/hg19 16p12.2(chr16:21976691-22386881)
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1
GRCh37/hg19 16p13.11(chr16:14897625-16494783)
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1
NC_000016.10:g.21936825_22429665del
NC_000016.10:g.29640592_30187862del
NM_005411.5(SFTPA1):c.292G>A (p.Gly98Arg) rs1589239722
Single allele

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