ClinVar Miner

Variants in gene SLC7A7 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 32
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter) rs773357652 0.00001
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798 0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs) rs752263234 0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs) rs1355745932 0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs) rs386833806 0.00001
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs) rs2139383552
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs) rs1290445670
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs) rs386833812
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs) rs386833813
NM_003982.4(SLC7A7):c.499+1G>A rs386833817
NM_003982.4(SLC7A7):c.516del (p.Asn173fs) rs2038690553
NM_003982.4(SLC7A7):c.539del (p.Gly180fs) rs1414333836
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter) rs386833821
NM_003982.4(SLC7A7):c.625+1G>C rs386833822
NM_003982.4(SLC7A7):c.625+1G>T rs386833822
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter) rs2038664064
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter) rs2139394686
NM_003982.4(SLC7A7):c.770+1del rs2139394672
NM_003982.4(SLC7A7):c.894+1G>T rs386833827
NM_003982.4(SLC7A7):c.895-2A>G rs146582474
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter) rs2038594225
NM_003982.4(SLC7A7):c.998+1G>T rs386833828

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