List of variants reported as likely pathogenic for DNA repair disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00005
NM_000135.4(FANCA):c.3349-1G>A	rs769862233	0.00004
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	rs121917787	0.00001
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)	rs1567635573
NM_000135.4(FANCA):c.2014+1G>C	rs1598116164
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)	rs1567618907
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val)	rs1567603987
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs)	rs1559399574
NM_032444.4(SLX4):c.425del (p.Gly142fs)	rs757662453

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