List of variants reported as benign for Methylmalonic acidemia with homocystinuria, type cblJ

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_005050.4(ABCD4):c.1753-46A>G	rs929449	0.99998
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr)	rs4148077	0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys)	rs3742801	0.30506
NM_005050.4(ABCD4):c.981C>A (p.Leu327=)	rs4148078	0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=)	rs2301345	0.29779
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg)	rs58272575	0.07062
NM_005050.4(ABCD4):c.1560-12A>C	rs74061802	0.06985
NM_005050.4(ABCD4):c.668+7C>T	rs61757464	0.06982
NM_005050.4(ABCD4):c.1636+10C>T	rs74061801	0.06981
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val)	rs61744947	0.06981
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=)	rs57773157	0.06977
NM_005050.4(ABCD4):c.492C>G (p.Leu164=)	rs36031534	0.06974
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=)	rs11845976	0.06972
NM_005050.4(ABCD4):c.815-13G>C	rs74063815	0.06964
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=)	rs1052000	0.06963
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile)	rs34992370	0.06330
NM_005050.4(ABCD4):c.195T>C (p.Ser65=)	rs35417609	0.00937
NM_005050.4(ABCD4):c.1028+6G>T	rs115783644	0.00836
NM_005050.4(ABCD4):c.669-13T>G	rs144451801	0.00836
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro)	rs139863822	0.00711
NM_005050.4(ABCD4):c.543-14T>C	rs79311122	0.00556
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln)	rs143288344	0.00421
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=)	rs35522023	0.00378
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp)	rs147795328	0.00041
NM_005050.4(ABCD4):c.669-11_669-8del	rs373949463	0.00026
NM_005050.4(ABCD4):c.756G>A (p.Arg252=)	rs149632647	0.00010
NM_005050.4(ABCD4):c.1752+5C>T	rs370270229	0.00007
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln)	rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg)	rs35073715
NM_005050.4(ABCD4):c.1420-11dup
NM_005050.4(ABCD4):c.1507-11G>C	rs375805220
NM_005050.4(ABCD4):c.669-6G>T	rs115029507
NM_005050.4(ABCD4):c.937-17C>T

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