List of variants studied for aplastic anemia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	rs374186605	0.00008
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)	rs760922582	0.00007
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu)	rs199929086	0.00004
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser)	rs776371246	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000136.3(FANCC):c.67del (p.Asp23fs)	rs104886459
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)	rs1364046604
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu)	rs1704930969
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)	rs80357819
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)	rs876660071
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)	rs199592185

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