ClinVar Miner

List of variants in gene DSC2 studied for not provided

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Total variants: 78
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HGVS dbSNP
NM_004949.4(DSC2):c.1069C>T (p.Arg357Cys) rs879255385
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_004949.4(DSC2):c.2125+1delG rs794728072
NM_004949.4(DSC2):c.943-1G>A rs796756333
NM_024422.3(DSC2):c.1081G>A (p.Val361Met) rs751810874
NM_024422.3(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.3(DSC2):c.2138C>T (p.Thr713Met) rs180863872
NM_024422.3(DSC2):c.2487delT (p.Phe829Leufs) rs794728073
NM_024422.3(DSC2):c.321G>T (p.Lys107Asn) rs140856220
NM_024422.3(DSC2):c.325A>C (p.Ile109Leu) rs1256252633
NM_024422.3(DSC2):c.473delA (p.Gln158Argfs) rs1064795963
NM_024422.3(DSC2):c.743_748delATACTT (p.Tyr248_Thr249del) rs776784065
NM_024422.4(DSC2):c.1019C>A (p.Thr340Asn) rs757065157
NM_024422.4(DSC2):c.101dup (p.Asn34Lysfs) rs1555640396
NM_024422.4(DSC2):c.1070G>A (p.Arg357His) rs201201194
NM_024422.4(DSC2):c.1091T>G (p.Val364Gly) rs368089478
NM_024422.4(DSC2):c.1103C>T (p.Thr368Ile) rs538663626
NM_024422.4(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.4(DSC2):c.1167G>A (p.Trp389Ter) rs1555638995
NM_024422.4(DSC2):c.1231A>G (p.Lys411Glu) rs560482778
NM_024422.4(DSC2):c.1276G>A (p.Glu426Lys) rs794728076
NM_024422.4(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.4(DSC2):c.1352C>T (p.Ser451Leu) rs794728068
NM_024422.4(DSC2):c.135C>T (p.Ala45=) rs749323567
NM_024422.4(DSC2):c.1421C>T (p.Pro474Leu) rs776398212
NM_024422.4(DSC2):c.1469G>A (p.Ser490Asn) rs780446276
NM_024422.4(DSC2):c.1521-13T>A rs794728069
NM_024422.4(DSC2):c.1576T>G (p.Ser526Ala) rs794728070
NM_024422.4(DSC2):c.1635_1636dup (p.Asn546Ilefs) rs1555638622
NM_024422.4(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
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.1766T>C (p.Met589Thr) rs201856473
NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.4(DSC2):c.1875G>C (p.Leu625=) rs142594406
NM_024422.4(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.4(DSC2):c.2033C>T (p.Thr678Ile) rs794728062
NM_024422.4(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.4(DSC2):c.2112_2116delAGCAT (p.Phe708Hisfs) rs1555637555
NM_024422.4(DSC2):c.2191G>A (p.Asp731Asn) rs762055797
NM_024422.4(DSC2):c.2250+2T>C rs1064793731
NM_024422.4(DSC2):c.2298G>C (p.Gln766His) rs139558481
NM_024422.4(DSC2):c.2314G>A (p.Val772Met) rs146029947
NM_024422.4(DSC2):c.2318G>C (p.Gly773Ala) rs749174176
NM_024422.4(DSC2):c.2335G>A (p.Gly779Arg) rs139290300
NM_024422.4(DSC2):c.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.4(DSC2):c.2392C>A (p.Arg798=) rs201548399
NM_024422.4(DSC2):c.2396G>A (p.Gly799Glu) rs794728071
NM_024422.4(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.4(DSC2):c.2509-113_2509-112del rs786205428
NM_024422.4(DSC2):c.2548delGinsTT (p.Ala850Phefs) rs794728077
NM_024422.4(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_024422.4(DSC2):c.2603C>T (p.Ser868Phe) rs141873745
NM_024422.4(DSC2):c.2623C>T (p.Arg875Ter) rs727504823
NM_024422.4(DSC2):c.327A>G (p.Ile109Met) rs373305929
NM_024422.4(DSC2):c.356T>A (p.Val119Asp) rs794728074
NM_024422.4(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.4(DSC2):c.431T>C (p.Met144Thr) rs794728065
NM_024422.4(DSC2):c.536A>G (p.Asp179Gly) rs760185784
NM_024422.4(DSC2):c.601G>A (p.Val201Ile) rs202058544
NM_024422.4(DSC2):c.608G>A (p.Arg203His) rs758527425
NM_024422.4(DSC2):c.631-2A>G rs397514042
NM_024422.4(DSC2):c.646A>G (p.Thr216Ala) rs755298693
NM_024422.4(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_024422.4(DSC2):c.734A>C (p.Glu245Ala) rs373201722
NM_024422.4(DSC2):c.737A>G (p.Glu246Gly) rs1057524741
NM_024422.4(DSC2):c.745A>C (p.Thr249Pro) rs149848359
NM_024422.4(DSC2):c.77delT (p.Ile26Asnfs) rs1555640399
NM_024422.4(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.4(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024422.4(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.4(DSC2):c.854T>C (p.Ile285Thr) rs199918720
NM_024422.4(DSC2):c.857G>T (p.Gly286Val) rs199682735
NM_024422.4(DSC2):c.901A>G (p.Thr301Ala) rs576466497
NM_024422.4(DSC2):c.994T>C (p.Tyr332His) rs794728067
NM_024422.6(DSC2):c.1290G>C (p.Gln430His)
NM_024422.6(DSC2):c.1816C>A (p.Pro606Thr)

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