ClinVar Miner

List of variants reported as likely benign for Cerebral folate transport deficiency

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655 0.00274
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00172
NC_000011.10:g.72189540C>T rs189949559 0.00070
NM_016729.3(FOLR1):c.396G>A (p.Val132=) rs35179028 0.00033
NM_016729.3(FOLR1):c.157T>C (p.Leu53=) rs143413500 0.00029
NM_016729.3(FOLR1):c.103A>G (p.Asn35Asp) rs149216939 0.00028
NM_016729.3(FOLR1):c.117C>T (p.Asn39=) rs376392205 0.00026
NM_016729.3(FOLR1):c.357+8T>A rs886042924 0.00016
NM_016729.3(FOLR1):c.357+18C>A rs754798966 0.00015
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg) rs148345688 0.00006
NM_016729.3(FOLR1):c.168+8del rs762496618 0.00005
NM_016729.3(FOLR1):c.507C>T (p.Cys169=) rs398124307 0.00004
NM_016729.3(FOLR1):c.171T>C (p.Cys57=) rs930764783 0.00003
NM_016729.3(FOLR1):c.393C>T (p.Asn131=) rs61735636 0.00003
NM_016729.3(FOLR1):c.493+18C>A rs1174508582 0.00003
NM_016729.3(FOLR1):c.147C>T (p.Pro49=) rs758121091 0.00002
NM_016729.3(FOLR1):c.447C>T (p.Ser149=) rs191657981 0.00002
NM_016729.3(FOLR1):c.493+12G>A rs190090266 0.00002
NM_016729.3(FOLR1):c.165G>A (p.Glu55=) rs143835232 0.00001
NM_016729.3(FOLR1):c.169-7C>G rs1297822149 0.00001
NM_016729.3(FOLR1):c.18A>G (p.Thr6=) rs1279081270 0.00001
NM_016729.3(FOLR1):c.261C>T (p.Asn87=) rs375444839 0.00001
NM_016729.3(FOLR1):c.333C>T (p.Pro111=) rs772210412 0.00001
NM_016729.3(FOLR1):c.435T>C (p.Asp145=) rs557643537 0.00001
NM_016729.3(FOLR1):c.493+19A>G rs927144753 0.00001
NM_016729.3(FOLR1):c.493+8C>G rs1160452954 0.00001
NM_016729.3(FOLR1):c.534C>T (p.Phe178=) rs1948225989 0.00001
NM_016729.3(FOLR1):c.564G>A (p.Leu188=) rs774348178 0.00001
NM_016729.3(FOLR1):c.57A>G (p.Val19=) rs769589754 0.00001
NM_016729.3(FOLR1):c.588C>T (p.Ser196=) rs755278391 0.00001
NM_016729.3(FOLR1):c.642C>T (p.Phe214=) rs868478657 0.00001
NM_016729.3(FOLR1):c.678G>A (p.Ala226=) rs531930335 0.00001
NM_016729.3(FOLR1):c.750A>G (p.Leu250=) rs374262573 0.00001
NM_016729.3(FOLR1):c.111C>T (p.Cys37=) rs997052303
NM_016729.3(FOLR1):c.138G>A (p.Lys46=) rs752262458
NM_016729.3(FOLR1):c.141A>G (p.Pro47=)
NM_016729.3(FOLR1):c.144C>A (p.Gly48=)
NM_016729.3(FOLR1):c.162T>C (p.His54=) rs2135385566
NM_016729.3(FOLR1):c.168+10G>C
NM_016729.3(FOLR1):c.168+11G>A rs1313443369
NM_016729.3(FOLR1):c.169-12T>C
NM_016729.3(FOLR1):c.169-13T>G
NM_016729.3(FOLR1):c.169-14del
NM_016729.3(FOLR1):c.169-17T>C
NM_016729.3(FOLR1):c.169-19T>C
NM_016729.3(FOLR1):c.169-5T>C
NM_016729.3(FOLR1):c.169-7C>T rs1297822149
NM_016729.3(FOLR1):c.169-8C>A rs1221189280
NM_016729.3(FOLR1):c.192C>T (p.Ala64=) rs1057523002
NM_016729.3(FOLR1):c.198T>C (p.Cys66=)
NM_016729.3(FOLR1):c.222C>A (p.Ala74=)
NM_016729.3(FOLR1):c.237C>T (p.Ser79=) rs867175310
NM_016729.3(FOLR1):c.247A>C (p.Arg83=) rs1948213319
NM_016729.3(FOLR1):c.282T>C (p.Pro94=) rs765796999
NM_016729.3(FOLR1):c.309C>T (p.Asp103=) rs1488664788
NM_016729.3(FOLR1):c.337T>C (p.Leu113=)
NM_016729.3(FOLR1):c.358-16T>C
NM_016729.3(FOLR1):c.358-19T>C
NM_016729.3(FOLR1):c.387A>G (p.Val129=) rs1948219692
NM_016729.3(FOLR1):c.42G>A (p.Val14=)
NM_016729.3(FOLR1):c.441C>T (p.Arg147=)
NM_016729.3(FOLR1):c.459G>A (p.Lys153=) rs1393300891
NM_016729.3(FOLR1):c.493+13G>A
NM_016729.3(FOLR1):c.493+13G>C
NM_016729.3(FOLR1):c.493+15G>C
NM_016729.3(FOLR1):c.494-20G>A
NM_016729.3(FOLR1):c.494-7del
NM_016729.3(FOLR1):c.510A>G (p.Ala170=) rs564331848
NM_016729.3(FOLR1):c.519T>C (p.Ala173=)
NM_016729.3(FOLR1):c.522C>T (p.Ala174=) rs2135389042
NM_016729.3(FOLR1):c.531T>C (p.Pro177=)
NM_016729.3(FOLR1):c.54A>T (p.Val18=) rs1591243659
NM_016729.3(FOLR1):c.570T>C (p.Asn190=) rs1948226632
NM_016729.3(FOLR1):c.585C>T (p.His195=)
NM_016729.3(FOLR1):c.597C>T (p.Val199=) rs1948227567
NM_016729.3(FOLR1):c.621C>T (p.Gly207=)
NM_016729.3(FOLR1):c.654G>A (p.Gln218=)
NM_016729.3(FOLR1):c.714C>T (p.Pro238=) rs1057520942
NM_016729.3(FOLR1):c.735G>T (p.Leu245=) rs1174196971
NM_016729.3(FOLR1):c.744G>T (p.Leu248=)
NM_016729.3(FOLR1):c.750A>C (p.Leu250=)
NM_016729.3(FOLR1):c.765G>A (p.Leu255=)
NM_016729.3(FOLR1):c.81A>C (p.Ala27=) rs1057520285

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