List of variants studied for DNA repair disease by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)	rs45439097	0.00121
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)	rs28997571	0.00034
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp)	rs140348260	0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)	rs730881725	0.00004
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)	rs587780773	0.00002
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)	rs571668582	0.00001
NM_032043.3(BRIP1):c.1474-3T>C	rs552752779	0.00001
NM_000136.3(FANCC):c.345+4AG[2]	rs755657969
NM_000136.3(FANCC):c.67del (p.Asp23fs)	rs104886459
NM_002485.5(NBN):c.2071-1175_2184+2del
NM_002485.5(NBN):c.804G>T (p.Thr268=)	rs141443872

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