List of variants in gene combination ENG, LOC102723566 reported as likely benign by Invitae

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: 123

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)	rs142896669	0.00037
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)	rs141330288	0.00034
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)	rs143724056	0.00029
NM_001114753.3(ENG):c.1312-12G>A	rs201684408	0.00026
NM_001114753.3(ENG):c.1686+6T>G	rs369766351	0.00019
NM_001114753.3(ENG):c.1135-8C>T	rs79426098	0.00011
NM_001114753.3(ENG):c.1259T>C (p.Met420Thr)	rs766272638	0.00008
NM_001114753.3(ENG):c.1712G>A (p.Arg571His)	rs138799379	0.00007
NM_001114753.3(ENG):c.1446C>T (p.Ser482=)	rs143945873	0.00006
NM_001114753.3(ENG):c.1252G>C (p.Ala418Pro)	rs150293362	0.00005
NM_001114753.3(ENG):c.1273-4G>A	rs373308042	0.00005
NM_001114753.3(ENG):c.1632C>T (p.Thr544=)	rs117510900	0.00005
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)	rs764262721	0.00005
NM_001114753.3(ENG):c.1312-13C>T	rs770902350	0.00004
NM_001114753.3(ENG):c.1389C>T (p.Ala463=)	rs200168633	0.00004
NM_001114753.3(ENG):c.1437G>A (p.Val479=)	rs754600063	0.00004
NM_001114753.3(ENG):c.1682A>C (p.Asp561Ala)	rs375965489	0.00004
NM_001114753.3(ENG):c.1686+18C>T	rs767620198	0.00004
NM_001114753.3(ENG):c.1742-15G>A	rs201678228	0.00004
NM_001114753.3(ENG):c.1299A>G (p.Ser433=)	rs762387524	0.00003
NM_001114753.3(ENG):c.1323C>T (p.His441=)	rs751203937	0.00003
NM_001114753.3(ENG):c.1671C>T (p.Thr557=)	rs369135742	0.00003
NM_001114753.3(ENG):c.1672G>A (p.Gly558Arg)	rs373230507	0.00003
NM_001114753.3(ENG):c.1154C>T (p.Thr385Met)	rs199764615	0.00002
NM_001114753.3(ENG):c.1155G>A (p.Thr385=)	rs770249062	0.00002
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln)	rs199629212	0.00002
NM_001114753.3(ENG):c.1572C>T (p.Pro524=)	rs760682477	0.00002
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)	rs757511675	0.00002
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly)	rs1315317848	0.00001
NM_001114753.3(ENG):c.1273-5C>T	rs779103881	0.00001
NM_001114753.3(ENG):c.1275G>A (p.Ala425=)	rs963830488	0.00001
NM_001114753.3(ENG):c.1293G>A (p.Ser431=)	rs774036076	0.00001
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)	rs763594769	0.00001
NM_001114753.3(ENG):c.1312-10C>T	rs1830401278	0.00001
NM_001114753.3(ENG):c.1327C>G (p.Leu443Val)	rs375171647	0.00001
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr)	rs748457491	0.00001
NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu)	rs367753784	0.00001
NM_001114753.3(ENG):c.1428+18C>A	rs1399497751	0.00001
NM_001114753.3(ENG):c.1429-5T>C	rs777525174	0.00001
NM_001114753.3(ENG):c.1429-9C>T	rs370836025	0.00001
NM_001114753.3(ENG):c.1480C>G (p.His494Asp)	rs775718026	0.00001
NM_001114753.3(ENG):c.1584G>A (p.Pro528=)	rs189572386	0.00001
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=)	rs570296266	0.00001
NM_001114753.3(ENG):c.1650G>A (p.Thr550=)	rs1425275422	0.00001
NM_001114753.3(ENG):c.1687-7C>T	rs756527693	0.00001
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile)	rs781201877	0.00001
NM_001114753.3(ENG):c.1135-10del
NM_001114753.3(ENG):c.1135-15del
NM_001114753.3(ENG):c.1135-20G>A
NM_001114753.3(ENG):c.1135-4C>T
NM_001114753.3(ENG):c.1152C>T (p.Ile384=)
NM_001114753.3(ENG):c.1161G>C (p.Leu387=)
NM_001114753.3(ENG):c.1200T>C (p.Gly400=)	rs1306446029
NM_001114753.3(ENG):c.1203C>T (p.Asp401=)	rs2131879238
NM_001114753.3(ENG):c.1209T>C (p.Phe403=)
NM_001114753.3(ENG):c.1215G>A (p.Leu405=)
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)	rs751787590
NM_001114753.3(ENG):c.1218C>T (p.Arg406=)
NM_001114753.3(ENG):c.1230C>T (p.Ser410=)
NM_001114753.3(ENG):c.1272+10G>A
NM_001114753.3(ENG):c.1272+13G>T
NM_001114753.3(ENG):c.1272+14C>G	rs1211943511
NM_001114753.3(ENG):c.1272+16A>C	rs1271187725
NM_001114753.3(ENG):c.1272+8C>A	rs1273740782
NM_001114753.3(ENG):c.1273-10A>G	rs2131878677
NM_001114753.3(ENG):c.1273-14C>G
NM_001114753.3(ENG):c.1273-14C>T
NM_001114753.3(ENG):c.1273-15_1273-8dup	rs1588576650
NM_001114753.3(ENG):c.1273-18C>T
NM_001114753.3(ENG):c.1273-19C>T
NM_001114753.3(ENG):c.1278G>A (p.Val426=)
NM_001114753.3(ENG):c.1278G>C (p.Val426=)
NM_001114753.3(ENG):c.1290G>A (p.Leu430=)
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)	rs377321205
NM_001114753.3(ENG):c.1302A>G (p.Ser434=)	rs1588576596
NM_001114753.3(ENG):c.1311+13G>A
NM_001114753.3(ENG):c.1311+15C>T
NM_001114753.3(ENG):c.1311+18G>A
NM_001114753.3(ENG):c.1311+89C>T	rs368202311
NM_001114753.3(ENG):c.1312-16T>G
NM_001114753.3(ENG):c.1312-16_1312-13del	rs1276298912
NM_001114753.3(ENG):c.1312-19C>T
NM_001114753.3(ENG):c.1312-20T>C	rs1448646670
NM_001114753.3(ENG):c.1312-4C>G	rs2131877165
NM_001114753.3(ENG):c.1338C>T (p.Asp446=)
NM_001114753.3(ENG):c.1401C>T (p.Ile467=)
NM_001114753.3(ENG):c.1402G>A (p.Glu468Lys)
NM_001114753.3(ENG):c.1428+11T>C
NM_001114753.3(ENG):c.1428+20C>A
NM_001114753.3(ENG):c.1428+8G>A	rs2131876799
NM_001114753.3(ENG):c.1429-16C>T
NM_001114753.3(ENG):c.1429-6A>G
NM_001114753.3(ENG):c.1429-8C>G	rs376169815
NM_001114753.3(ENG):c.1429-8C>T
NM_001114753.3(ENG):c.1434A>T (p.Arg478Ser)	rs778561832
NM_001114753.3(ENG):c.1440C>A (p.Ser480=)	rs1588575160
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)	rs2131876068
NM_001114753.3(ENG):c.1497T>C (p.Pro499=)
NM_001114753.3(ENG):c.1512G>A (p.Val504=)	rs2131875976
NM_001114753.3(ENG):c.1530G>A (p.Arg510=)	rs1225393890
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu)	rs929266862
NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys)
NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala)
NM_001114753.3(ENG):c.1620C>G (p.Pro540=)	rs1163127969
NM_001114753.3(ENG):c.1655C>A (p.Ala552Asp)
NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys)
NM_001114753.3(ENG):c.1661G>A (p.Arg554His)
NM_001114753.3(ENG):c.1674G>C (p.Gly558=)	rs2131875527
NM_001114753.3(ENG):c.1686+15G>A
NM_001114753.3(ENG):c.1686+8G>A	rs372670034
NM_001114753.3(ENG):c.1686+8G>C	rs372670034
NM_001114753.3(ENG):c.1686+9G>C	rs754153231
NM_001114753.3(ENG):c.1687-15C>T
NM_001114753.3(ENG):c.1687-19CT[3]
NM_001114753.3(ENG):c.1695T>G (p.His565Gln)
NM_001114753.3(ENG):c.1698G>A (p.Arg566=)	rs1554809103
NM_001114753.3(ENG):c.1704C>T (p.Val568=)	rs1830344643
NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)
NM_001114753.3(ENG):c.1734C>T (p.Asp578=)
NM_001114753.3(ENG):c.1741+10C>T	rs1554809082
NM_001114753.3(ENG):c.1741+79G>A	rs551082475
NM_001114753.3(ENG):c.1741+8C>A
NM_001114753.3(ENG):c.1742-19T>C

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