List of variants reported as likely pathogenic for anemia by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.1769+1G>A	rs778738842	0.00009
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00005
NM_000136.3(FANCC):c.521+1G>A	rs145394391	0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_000518.5(HBB):c.316-7C>A	rs34483965	0.00003
NM_000135.4(FANCA):c.1777-1G>C	rs755104393	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met)	rs761061866	0.00002
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	rs753700179	0.00001
NM_000136.3(FANCC):c.345+1G>A	rs1175257797	0.00001
NM_000136.3(FANCC):c.522-1G>C	rs1014112491	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000289.6(PFKM):c.1191+1G>A	rs746348793	0.00001
NM_000289.6(PFKM):c.1500+1G>A	rs770066278	0.00001
NM_001386140.1(MTTP):c.1868-2A>G	rs760547155	0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)	rs1293600145	0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)	rs767443643	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00001
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)	rs2040074214
NM_000135.4(FANCA):c.2151+1dup	rs777971510
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)	rs1380850249
NM_000135.4(FANCA):c.3935-1G>A	rs1555533693
NM_000135.4(FANCA):c.523-1G>T	rs1477653630
NM_000136.3(FANCC):c.346-1G>A	rs1484503633
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)	rs776054094
NM_000136.3(FANCC):c.896+1G>C	rs1554833186
NM_000136.3(FANCC):c.996+1G>A	rs370510954
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	rs121918193
NM_000289.6(PFKM):c.159+1G>T	rs1305706304
NM_000518.5(HBB):c.176del (p.Pro59fs)	rs35395625
NM_000518.5(HBB):c.292_295dup (p.Val99fs)	rs1564874901
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	rs33960103
NM_002454.3(MTRR):c.1371-1G>A	rs1219605974
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	rs200895671
NM_025215.6(PUS1):c.454dup (p.Ala152fs)	rs1555268564

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