List of variants in gene JUP reported as uncertain significance for Cardiomyopathy

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)	rs147628503	0.00019
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)	rs368271628	0.00018
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)	rs375788626	0.00007
NM_002230.4(JUP):c.109G>A (p.Val37Ile)	rs150769772	0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)	rs782439900	0.00006
NM_002230.4(JUP):c.1130G>A (p.Arg377His)	rs794729044	0.00005
NM_002230.4(JUP):c.2105G>A (p.Arg702His)	rs200690479	0.00004
NM_002230.4(JUP):c.329C>T (p.Ala110Val)	rs782770278	0.00004
NM_002230.4(JUP):c.286G>A (p.Glu96Lys)	rs191683892	0.00002
NM_002230.4(JUP):c.1319A>G (p.His440Arg)	rs782305614	0.00001
NM_002230.4(JUP):c.151C>T (p.Arg51Cys)	rs782254006	0.00001
NM_002230.4(JUP):c.485C>T (p.Ala162Val)	rs369121094	0.00001
NM_002230.4(JUP):c.562G>A (p.Ala188Thr)	rs782585387	0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)	rs782076415	0.00001
NM_002230.4(JUP):c.764T>G (p.Leu255Arg)	rs878854482	0.00001
NM_002230.4(JUP):c.1212C>T (p.Asp404=)	rs1482026041
NM_002230.4(JUP):c.1497+8T>C	rs1555601979
NM_002230.4(JUP):c.1497G>C (p.Lys499Asn)	rs1555601984
NM_002230.4(JUP):c.1915G>A (p.Glu639Lys)
NM_002230.4(JUP):c.509C>G (p.Ser170Trp)	rs782284038
NM_002230.4(JUP):c.532G>A (p.Ala178Thr)
NM_002230.4(JUP):c.707+5C>T	rs375580484
NM_002230.4(JUP):c.708-10A>C
NM_002230.4(JUP):c.708-6C>T	rs782704213
NM_002230.4(JUP):c.950A>C (p.Gln317Pro)	rs782509792

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