List of variants in gene combination POMGNT1, TSPAN1 reported as likely benign by GeneDx

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_017739.4(POMGNT1):c.1785+46C>T	rs112610756	0.01013
NM_017739.4(POMGNT1):c.1414-38G>A	rs72897094	0.00865
NM_017739.4(POMGNT1):c.1650-196G>A	rs187191355	0.00422
NM_017739.4(POMGNT1):c.1605-62G>A	rs116579447	0.00411
NM_017739.4(POMGNT1):c.1211+44A>C	rs148499695	0.00389
NM_017739.4(POMGNT1):c.*221G>A	rs181362801	0.00374
NM_017739.4(POMGNT1):c.*451C>T	rs148903585	0.00364
NM_017739.4(POMGNT1):c.1539+218G>A	rs540928212	0.00326
NM_017739.4(POMGNT1):c.1539+69G>A	rs192904169	0.00285
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	rs17102066	0.00264
NM_017739.4(POMGNT1):c.1650-41T>C	rs369372763	0.00181
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)	rs146121135	0.00061
NM_017739.4(POMGNT1):c.534+15C>T	rs141676863	0.00038
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)	rs138330966	0.00034
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)	rs140724142	0.00033
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)	rs146933218	0.00012
NM_017739.4(POMGNT1):c.421-13_421-10dup	rs772136218	0.00011
NM_017739.4(POMGNT1):c.652+6G>A	rs369289384	0.00011
NM_017739.4(POMGNT1):c.1111-9C>T	rs757533535	0.00006
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)	rs375432782	0.00004
NM_017739.4(POMGNT1):c.1284+8G>A	rs761259999	0.00003
NM_017739.4(POMGNT1):c.507C>T (p.Pro169=)	rs576860809	0.00003
NM_017739.4(POMGNT1):c.1414-11A>C	rs772014671	0.00002
NM_017739.4(POMGNT1):c.1212-4T>G	rs778941358	0.00001
NM_017739.4(POMGNT1):c.1560C>T (p.His520=)	rs1057521878	0.00001
NM_017739.4(POMGNT1):c.1786-17C>T	rs1209878503	0.00001
NM_017739.4(POMGNT1):c.535-14C>G	rs778926136	0.00001
NM_017739.4(POMGNT1):c.861C>T (p.Ile287=)	rs764747122	0.00001
NM_017739.4(POMGNT1):c.1173T>C (p.Val391=)	rs142739678
NM_017739.4(POMGNT1):c.1569C>T (p.Asn523=)	rs1057523859
NM_017739.4(POMGNT1):c.1785+40C>G	rs190156535
NM_017739.4(POMGNT1):c.535-7C>T	rs375913574
NM_017739.4(POMGNT1):c.624C>T (p.Asp208=)	rs1553163762
NM_017739.4(POMGNT1):c.652+19A>G	rs1475010799

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