List of variants in gene TWNK 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: 27

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.*204G>A	rs61871507	0.01328
NM_021830.5(TWNK):c.1485-255C>T	rs2863096	0.01136
NM_021830.5(TWNK):c.-241C>T	rs113159821	0.00734
NM_021830.5(TWNK):c.1735-260G>A	rs181827983	0.00474
NM_021830.5(TWNK):c.1735-269G>T	rs189427818	0.00474
NM_021830.5(TWNK):c.*455C>T	rs148810959	0.00460
NM_021830.5(TWNK):c.1593-76T>C	rs116741051	0.00431
NM_021830.5(TWNK):c.1596C>T (p.Ile532=)	rs146690237	0.00078
NM_021830.5(TWNK):c.384C>T (p.Ser128=)	rs148234280	0.00045
NM_021830.5(TWNK):c.1485-11C>T	rs374567545	0.00039
NM_021830.5(TWNK):c.801T>G (p.Leu267=)	rs149630750	0.00029
NM_021830.5(TWNK):c.75G>A (p.Arg25=)	rs140229023	0.00014
NM_021830.5(TWNK):c.434C>T (p.Ala145Val)	rs143938897	0.00013
NM_021830.5(TWNK):c.2015C>G (p.Pro672Arg)	rs199583659	0.00010
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)	rs369223258	0.00009
NM_021830.5(TWNK):c.726C>T (p.Ser242=)	rs772106344	0.00006
NM_021830.5(TWNK):c.1713G>A (p.Ala571=)	rs377742767	0.00005
NM_021830.5(TWNK):c.198G>A (p.Gly66=)	rs752613820	0.00002
NM_021830.5(TWNK):c.1244-14C>T	rs758757135	0.00001
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)	rs754081544	0.00001
NM_021830.5(TWNK):c.-306GT[1]	rs146265037
NM_021830.5(TWNK):c.1338C>T (p.Ile446=)	rs766151894
NM_021830.5(TWNK):c.1593-6G>A	rs768295912
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)	rs182559752
NM_021830.5(TWNK):c.30C>T (p.Pro10=)	rs759909116
NM_021830.5(TWNK):c.340A>T (p.Met114Leu)	rs863223916
NM_021830.5(TWNK):c.879C>T (p.Ala293=)	rs775515511

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