ClinVar Miner

List of variants in gene DSC2 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 49
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HGVS dbSNP
NM_004949.4(DSC2):c.1001G>T (p.Gly334Val) rs397517388
NM_004949.4(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086
NM_004949.4(DSC2):c.1077+2T>G rs397517389
NM_004949.4(DSC2):c.1234dupA (p.Thr412Asnfs) rs397517390
NM_004949.4(DSC2):c.149G>A (p.Gly50Asp) rs397517391
NM_004949.4(DSC2):c.1521-5A>G rs397517392
NM_004949.4(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_004949.4(DSC2):c.1938T>G (p.Tyr646Ter) rs397517395
NM_004949.4(DSC2):c.2059G>C (p.Gly687Arg) rs199616533
NM_004949.4(DSC2):c.2082G>T (p.Lys694Asn) rs397517397
NM_004949.4(DSC2):c.2125+1delG rs794728072
NM_004949.4(DSC2):c.2174C>T (p.Pro725Leu) rs876657788
NM_004949.4(DSC2):c.2357T>C (p.Met786Thr) rs397517398
NM_004949.4(DSC2):c.2398G>T (p.Ala800Ser) rs565136635
NM_004949.4(DSC2):c.2398del (p.Ala800Leufs) rs397517399
NM_004949.4(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_004949.4(DSC2):c.474+5C>A rs397517400
NM_004949.4(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_004949.4(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_004949.4(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_004949.4(DSC2):c.721C>T (p.Pro241Ser) rs727505169
NM_004949.4(DSC2):c.776-12T>G rs397517403
NM_004949.4(DSC2):c.799G>C (p.Ala267Pro) rs966660258
NM_004949.4(DSC2):c.824C>A (p.Thr275Lys) rs397517404
NM_004949.4(DSC2):c.844T>C (p.Tyr282His) rs397517405
NM_004949.4(DSC2):c.865C>T (p.Pro289Ser) rs200802591
NM_004949.4(DSC2):c.893A>T (p.His298Leu) rs397517407
NM_024422.3(DSC2):c.743_748delATACTT (p.Tyr248_Thr249del) rs776784065
NM_024422.4(DSC2):c.1028_1030delTTA (p.Ile343del) rs1555639121
NM_024422.4(DSC2):c.1091T>G (p.Val364Gly) rs368089478
NM_024422.4(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195
NM_024422.4(DSC2):c.1552G>C (p.Val518Leu) rs397517394
NM_024422.4(DSC2):c.1721G>A (p.Ser574Asn) rs150318400
NM_024422.4(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.4(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_024422.4(DSC2):c.1775C>T (p.Ala592Val) rs140232809
NM_024422.4(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.4(DSC2):c.2263G>A (p.Gly755Ser) rs727502979
NM_024422.4(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.4(DSC2):c.2446G>A (p.Val816Met) rs377700521
NM_024422.4(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.4(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_024422.4(DSC2):c.2623C>T (p.Arg875Ter) rs727504823
NM_024422.4(DSC2):c.2626C>G (p.Gln876Glu) rs727504906
NM_024422.4(DSC2):c.394C>T (p.Arg132Cys) rs727504578
NM_024422.4(DSC2):c.547C>T (p.Arg183Trp) rs368082152
NM_024422.4(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.4(DSC2):c.857G>T (p.Gly286Val) rs199682735
NM_024422.4(DSC2):c.977A>C (p.Gln326Pro) rs397517409

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