List of variants reported as likely pathogenic for aplastic anemia by Mendelics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)	rs147021911	0.00104
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	rs267606997	0.00002
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)	rs149851163
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)	rs1596324325
NM_002641.4(PIGA):c.109A>G (p.Met37Val)	rs2147724073
NM_021922.3(FANCE):c.248+2T>C	rs1581696699
NM_032043.3(BRIP1):c.1936-2A>C	rs878855143
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)	rs786202760
NM_032043.3(BRIP1):c.205+1del	rs1057517648
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)	rs771654971
NM_032043.3(BRIP1):c.720del (p.Lys240fs)	rs1567838246
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)	rs1596520443
NM_032444.4(SLX4):c.4881del (p.Thr1628fs)	rs1596515638
NM_058216.3(RAD51C):c.1000del (p.Glu334fs)	rs1567817415
NM_058216.3(RAD51C):c.837+2T>C	rs1567799943
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter)	rs1598504016

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