List of variants studied for hematologic disorder by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)	rs61884288	0.02435
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)	rs17885240	0.00863
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)	rs111751379	0.00304
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00012
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)	rs199931785	0.00004
NM_000081.4(LYST):c.11268-5del	rs36014994
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)	rs4029402
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr)	rs772348768
NM_002473.6(MYH9):c.4400C>T (p.Ala1467Val)
NM_206965.2(FTCD):c.1103C>T (p.Ala368Val)	rs1033001525
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234

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