ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as pathogenic by Invitae

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.(?_25339117)_(25409127_?)del
NC_000015.10:g.(?_25354333)_(25360547_?)del
NC_000015.10:g.(?_25360363)_(25360547_?)del
NC_000015.10:g.(?_25375445)_(25375783_?)del
NC_000015.10:g.25375764del
NC_000015.9:g.(?_25584264)_(25654274_?)dup
NM_130838.1(UBE3A):c.-44_*1888del
NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter) rs2080245178
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) rs2080238010
NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter) rs2080231132
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
NM_130839.5(UBE3A):c.1322del (p.Ile441fs) rs1595804239
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) rs587784512
NM_130839.5(UBE3A):c.1428dup (p.Cys477fs)
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) rs1555399937
NM_130839.5(UBE3A):c.1600del (p.Val535fs) rs1566954070
NM_130839.5(UBE3A):c.171del (p.Leu58fs) rs2152848314
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) rs587781234
NM_130839.5(UBE3A):c.1920dup (p.Lys641fs)
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) rs587781213
NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs) rs2076939980
NM_130839.5(UBE3A):c.2378_2381del (p.Ser793fs) rs2074508602
NM_130839.5(UBE3A):c.2385del (p.Asp796fs) rs2152515439
NM_130839.5(UBE3A):c.2426_2427del (p.Thr809fs) rs1595375630
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2430_2433dup (p.Ala812fs) rs587781225
NM_130839.5(UBE3A):c.2498+2T>C rs2152514800
NM_130839.5(UBE3A):c.2515_2531dup (p.Leu846fs) rs2152507134
NM_130839.5(UBE3A):c.2535_2551del (p.Leu846fs) rs1064792950
NM_130839.5(UBE3A):c.2545_2560dup (p.Lys854fs)
NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter) rs587781228
NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs) rs587781229
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) rs398124440
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) rs1555379800
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2565_2584dup (p.Ala862delinsValLysArgAspCysTer)
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) rs587784529
NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter) rs2152823877
NM_130839.5(UBE3A):c.422_423del (p.Glu141fs) rs587780571
NM_130839.5(UBE3A):c.613_614del (p.Glu205fs)
NM_130839.5(UBE3A):c.656_657insTTGA (p.Asn219_Asn220insTer)
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro) rs587780582
NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)

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