List of variants reported as uncertain significance for Xeroderma pigmentosum, group E

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000107.3(DDB2):c.-123T>G	rs565058800	0.00216
NM_000107.3(DDB2):c.127+5T>G	rs199965459	0.00148
NM_000107.3(DDB2):c.*126T>C	rs554676341	0.00113
NM_000107.3(DDB2):c.1053T>C (p.Ile351=)	rs61741581	0.00039
NM_000107.3(DDB2):c.*287T>G	rs554393001	0.00029
NM_000107.3(DDB2):c.-36G>A	rs201317629	0.00021
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)	rs373622283	0.00016
NM_000107.3(DDB2):c.984G>A (p.Pro328=)	rs138255134	0.00014
NM_000107.3(DDB2):c.511C>G (p.Gln171Glu)	rs201703288	0.00007
NM_000107.3(DDB2):c.264+8A>G	rs374094218	0.00006
NM_000107.3(DDB2):c.-143A>G	rs981369560	0.00005
NM_000107.3(DDB2):c.1023+9C>T	rs372842821	0.00004
NM_000107.3(DDB2):c.930C>T (p.Ser310=)	rs549041558	0.00003
NM_000107.3(DDB2):c.*7C>T	rs763312773	0.00001
NM_000107.3(DDB2):c.1070C>T (p.Pro357Leu)	rs780665825	0.00001
NM_000107.3(DDB2):c.457-7G>A	rs375645261	0.00001
NM_000107.3(DDB2):c.533A>C (p.Glu178Ala)	rs760322280	0.00001
NM_000107.3(DDB2):c.852G>A (p.Ser284=)	rs1953702034	0.00001
NM_000107.3(DDB2):c.876C>T (p.Asn292=)	rs778504979	0.00001
NM_000107.3(DDB2):c.905G>A (p.Arg302Gln)	rs761699363	0.00001
NM_000107.3(DDB2):c.979A>T (p.Ile327Phe)	rs776075728	0.00001
NM_000107.3(DDB2):c.*142A>G	rs923041619
NM_000107.3(DDB2):c.-120G>C	rs4647707
NM_000107.3(DDB2):c.-56A>G	rs777159854
NM_000107.3(DDB2):c.1180A>G (p.Ile394Val)	rs886048362
NM_000107.3(DDB2):c.1234+1del
NM_000107.3(DDB2):c.254C>G (p.Ser85Cys)	rs770922074
NM_000107.3(DDB2):c.414C>G (p.Leu138=)	rs1953409225
NM_000107.3(DDB2):c.52C>T (p.Arg18Cys)	rs201229167
NM_000107.3(DDB2):c.702+12G>A	rs55847708
NM_000107.3(DDB2):c.727_732del (p.Lys243_Lys244del)
NM_000107.3(DDB2):c.914C>A (p.Thr305Asn)	rs886048361
NM_000107.3(DDB2):c.985C>T (p.His329Tyr)	rs1591001619

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