List of variants in gene DSP reported as uncertain significance for Arrhythmogenic right ventricular 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: 45

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)	rs142429411	0.00214
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)	rs148041814	0.00178
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)	rs145933612	0.00143
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	rs28763965	0.00131
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)	rs138329459	0.00103
NM_004415.4(DSP):c.88G>A (p.Val30Met)	rs121912998	0.00094
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)	rs147000526	0.00062
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)	rs142803672	0.00041
NM_004415.4(DSP):c.273+5G>A	rs200473206	0.00031
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	rs148147581	0.00026
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)	rs150339369	0.00021
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	rs140965835	0.00014
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)	rs151115778	0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)	rs149513743	0.00010
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)	rs144106775	0.00007
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)	rs535762713	0.00006
NM_004415.4(DSP):c.1469G>A (p.Arg490His)	rs747815091	0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)	rs367752002	0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)	rs753033333	0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=)	rs766580649	0.00004
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)	rs200243976	0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)	rs34738426	0.00002
NM_004415.4(DSP):c.265G>A (p.Val89Met)	rs766022243	0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)	rs763355815	0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)	rs759982048	0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser)	rs869025396	0.00001
NM_004415.3(DSP):c.-260A>G	rs886061738
NM_004415.4(DSP):c.*300C>A	rs886061750
NM_004415.4(DSP):c.*305C>A	rs886061751
NM_004415.4(DSP):c.*384C>A	rs886061753
NM_004415.4(DSP):c.*386G>T	rs886061754
NM_004415.4(DSP):c.*598G>T	rs886061756
NM_004415.4(DSP):c.*681C>A	rs886061757
NM_004415.4(DSP):c.-179T>C	rs886061741
NM_004415.4(DSP):c.-190G>T	rs886061740
NM_004415.4(DSP):c.-228C>A	rs886061739
NM_004415.4(DSP):c.-36C>A	rs886061743
NM_004415.4(DSP):c.1627A>C (p.Asn543His)	rs917602533
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)	rs770105310
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)	rs373385083
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro)	rs767885673
NM_004415.4(DSP):c.6167G>T (p.Gly2056Val)	rs2113699658
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)	rs864309585
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del)	rs1473818298

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