List of variants reported as not provided for anemia by GenomeConnect, ClinGen

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		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000324.3(RHAG):c.808G>A (p.Val270Ile)	rs16879498	0.04007
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)	rs147390654	0.00294
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	rs138824667	0.00256
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)	rs61756147	0.00021
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met)	rs537292240	0.00009
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	rs147277149	0.00007
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)	rs138023744	0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)	rs980145400	0.00006
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro)	rs199764020	0.00005
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)	rs374537936	0.00004
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)	rs755992543	0.00004
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	rs80359380	0.00001
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)	rs80359520
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)	rs397508010
NM_000987.5(RPL26):c.341del (p.Asp114fs)	rs2151671987
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val)	rs2139530241
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)	rs886039480
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr)	rs753733757
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr)	rs1553555777

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