List of variants studied for Fanconi anemia by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)	rs138248569	0.00026
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)	rs146975341	0.00017
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)	rs200713354	0.00013
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)	rs767396631	0.00011
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)	rs374984587	0.00006
NM_000136.3(FANCC):c.46A>T (p.Met16Leu)	rs1390412870	0.00003
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg)	rs374915316	0.00003
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)	rs780078373	0.00002
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln)	rs571996250	0.00002
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)	rs772828870	0.00001
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg)	rs1437529209	0.00001
NM_000135.4(FANCA):c.876C>G (p.His292Gln)	rs527897404	0.00001
NM_000136.3(FANCC):c.706A>G (p.Met236Val)	rs771319430	0.00001
NM_004629.2(FANCG):c.869A>G (p.Tyr290Cys)	rs779840229	0.00001
NM_000135.2:c.522+715_2852+656del
NM_000135.4(FANCA):c.1901-3C>A	rs17226526
NM_000135.4(FANCA):c.2602-13CT[2]	rs577636020
NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser)	rs2143088016
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu)	rs766131144
NM_000135.4(FANCA):c.494C>T (p.Ser165Phe)	rs141918444
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)	rs587778324
NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn)	rs1209146448

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