ClinVar Miner

List of variants reported as pathogenic for Werner syndrome by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628 0.00003
NM_000553.6(WRN):c.1578del (p.Leu528fs) rs780555196 0.00002
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) rs774765029 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter) rs143916053 0.00001
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter) rs763089663 0.00001
NM_000553.6(WRN):c.3460-1G>A rs1802899166 0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter) rs762379051 0.00001
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter) rs1303126572 0.00001
NM_000553.6(WRN):c.1134del (p.Glu379fs)
NM_000553.6(WRN):c.171C>G (p.Tyr57Ter) rs373806031
NM_000553.6(WRN):c.1801_1802del (p.Leu601fs)
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) rs1383589957
NM_000553.6(WRN):c.2229_2230del (p.Gly744fs)
NM_000553.6(WRN):c.2448+1G>A rs2130306367
NM_000553.6(WRN):c.2630+1G>A rs1279240593
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter) rs1585502089
NM_000553.6(WRN):c.3020del (p.Gly1007fs)
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) rs748860208
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_000553.6(WRN):c.3190C>T (p.Gln1064Ter)
NM_000553.6(WRN):c.3233+2T>C
NM_000553.6(WRN):c.356-2A>C rs780068269
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.3690_3693del rs606231162
NM_000553.6(WRN):c.502_503del (p.Lys168fs) rs776785728

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