ClinVar Miner

List of variants in gene DSC2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) rs367990772 0.00018
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024422.6(DSC2):c.2298G>C (p.Gln766His) rs139558481 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194 0.00011
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_024422.6(DSC2):c.2251-5T>G rs374262463 0.00009
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00009
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys) rs180908546 0.00008
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 0.00006
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745 0.00006
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407 0.00006
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) rs758950880 0.00004
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) rs202031070 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086 0.00003
NM_024422.6(DSC2):c.115G>A (p.Val39Ile) rs1447651355 0.00003
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp) rs1342808624 0.00003
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.601G>A (p.Val201Ile) rs202058544 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778 0.00002
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) rs188634770 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872 0.00002
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp) rs776401728 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) rs149848359 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr) rs1214725211 0.00001
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu) rs776398212 0.00001
NM_024422.6(DSC2):c.1576T>G (p.Ser526Ala) rs794728070 0.00001
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu) rs887847751 0.00001
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val) rs756058875 0.00001
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met) rs750329563 0.00001
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys) rs776917359 0.00001
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met) rs772775522 0.00001
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) rs794728071 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.2509-116A>G rs746058773 0.00001
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) rs1986695514 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2642T>A (p.Leu881His) rs1231247825 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425 0.00001
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) rs755298693 0.00001
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn) rs1987447409 0.00001
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087 0.00001
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile) rs761796202 0.00001
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) rs576466497 0.00001
GRCh37/hg19 18q12.1(chr18:28628215-28683174)x1
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys) rs794728076
NM_024422.6(DSC2):c.1290G>C (p.Gln430His) rs191461349
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr) rs2144814171
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu) rs794728068
NM_024422.6(DSC2):c.1521-13T>A rs794728069
NM_024422.6(DSC2):c.164A>T (p.Lys55Ile) rs2144847063
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met) rs2144800239
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe) rs755041461
NM_024422.6(DSC2):c.1816C>A (p.Pro606Thr) rs1598575823
NM_024422.6(DSC2):c.1823_1828delinsATGACC (p.Phe608_Phe610delinsTyrAspLeu) rs2144799644
NM_024422.6(DSC2):c.1871G>T (p.Arg624Ile)
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn) rs267605146
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) rs794728062
NM_024422.6(DSC2):c.2035C>T (p.His679Tyr) rs1567973075
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) rs1422818892
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser) rs727502979
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
NM_024422.6(DSC2):c.2509-111_2509-110del rs786205428
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys) rs2144781456
NM_024422.6(DSC2):c.2549C>G (p.Ala850Gly) rs2144781303
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu) rs1986683368
NM_024422.6(DSC2):c.356T>A (p.Val119Asp) rs794728074
NM_024422.6(DSC2):c.415C>G (p.Pro139Ala)
NM_024422.6(DSC2):c.431T>C (p.Met144Thr) rs794728065
NM_024422.6(DSC2):c.437A>G (p.Glu146Gly) rs575632427
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe) rs2144843013
NM_024422.6(DSC2):c.536A>G (p.Asp179Gly) rs760185784
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln) rs554713834
NM_024422.6(DSC2):c.572A>G (p.Asp191Gly) rs2144838855
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser) rs762722282
NM_024422.6(DSC2):c.715A>G (p.Asn239Asp) rs774551962
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly) rs1057524741
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.800C>G (p.Ala267Gly) rs2144830884
NM_024422.6(DSC2):c.812A>T (p.Asp271Val) rs1987412406
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys) rs397517404
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
NM_024422.6(DSC2):c.942+3A>G
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro) rs1481724064
NM_024422.6(DSC2):c.994T>C (p.Tyr332His) rs794728067

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