List of variants in gene NSD1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)	rs34921128	0.00190
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)	rs150296373	0.00077
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)	rs140815139	0.00073
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)	rs150920473	0.00054
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)	rs150854966	0.00052
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)	rs559617787	0.00017
NM_022455.5(NSD1):c.-8G>A	rs199639292	0.00016
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys)	rs377684553	0.00008
NM_022455.5(NSD1):c.6259-8A>T	rs370529039	0.00008
NM_022455.5(NSD1):c.142A>G (p.Met48Val)	rs200735877	0.00007
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)	rs142023792	0.00005
NM_022455.5(NSD1):c.1224A>G (p.Gly408=)	rs587784069	0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)	rs141911573	0.00003
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)	rs1406037834	0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)	rs147033795	0.00002
NM_022455.5(NSD1):c.108A>G (p.Gln36=)	rs549091873	0.00001
NM_022455.5(NSD1):c.1237-10T>C	rs587784070	0.00001
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys)	rs587784074	0.00001
NM_022455.5(NSD1):c.2925C>T (p.Ser975=)	rs587784090	0.00001
NM_022455.5(NSD1):c.4282G>A (p.Asp1428Asn)	rs757591029	0.00001
NM_022455.5(NSD1):c.4966+15T>C	rs587784130	0.00001
NM_022455.5(NSD1):c.1428G>A (p.Leu476=)	rs587784072
NM_022455.5(NSD1):c.1805G>A (p.Cys602Tyr)	rs797045806
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly)	rs587784108
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu)	rs587784113
NM_022455.5(NSD1):c.4378+7A>G	rs587784116
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)	rs201483724
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro)	rs587784159
NM_022455.5(NSD1):c.6152-14G>A	rs587784182
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)	rs398124380
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val)	rs587784212
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys)	rs587784213
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=)	rs587784215
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys)	rs1180593710

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