ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 43 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00256
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) rs146492790 0.00095
NM_031448.6(C19orf12):c.161-18C>T rs113947435 0.00023
NM_031448.6(C19orf12):c.405C>T (p.Ala135=) rs201476706 0.00014
NM_031448.6(C19orf12):c.342C>T (p.Ser114=) rs761692917 0.00011
NM_031448.6(C19orf12):c.171C>T (p.Val57=) rs372589316 0.00007
NM_031448.6(C19orf12):c.147G>A (p.Pro49=) rs751273429 0.00005
NM_031448.6(C19orf12):c.177G>A (p.Gly59=) rs768063881 0.00005
NM_031448.6(C19orf12):c.135G>A (p.Val45=) rs370529654 0.00004
NM_031448.6(C19orf12):c.249C>T (p.Ala83=) rs762174442 0.00004
NM_031448.6(C19orf12):c.276C>T (p.Ala92=) rs772027533 0.00004
NM_031448.6(C19orf12):c.-10-5C>T rs546546532 0.00003
NM_031448.6(C19orf12):c.309C>T (p.Asp103=) rs755631346 0.00003
NM_031448.6(C19orf12):c.327G>A (p.Ala109=) rs765448305 0.00003
NM_031448.6(C19orf12):c.384C>T (p.Tyr128=) rs769604905 0.00003
NM_031448.6(C19orf12):c.396G>A (p.Glu132=) rs752074465 0.00003
NM_031448.6(C19orf12):c.160+8C>T rs186360260 0.00002
NM_031448.6(C19orf12):c.-11+237A>G rs1204904947 0.00001
NM_031448.6(C19orf12):c.-7C>T rs142481023 0.00001
NM_031448.6(C19orf12):c.102C>T (p.Val34=) rs999507003 0.00001
NM_031448.6(C19orf12):c.123C>T (p.Val41=) rs374520604 0.00001
NM_031448.6(C19orf12):c.161-13C>T rs781118328 0.00001
NM_031448.6(C19orf12):c.161-9G>A rs546483084 0.00001
NM_031448.6(C19orf12):c.180G>C (p.Leu60=) rs762116472 0.00001
NM_031448.6(C19orf12):c.238C>T (p.Leu80=) rs753364652 0.00001
NM_031448.6(C19orf12):c.312C>T (p.Ala104=) rs749962129 0.00001
NM_031448.6(C19orf12):c.-11+204G>A rs2145662090
NM_031448.6(C19orf12):c.120C>T (p.Phe40=) rs1972486377
NM_031448.6(C19orf12):c.138C>T (p.Gly46=) rs552916460
NM_031448.6(C19orf12):c.141C>A (p.Gly47=) rs2513299747
NM_031448.6(C19orf12):c.153C>T (p.Leu51=) rs1162512554
NM_031448.6(C19orf12):c.160+9A>G rs771382701
NM_031448.6(C19orf12):c.161-17G>A rs749345042
NM_031448.6(C19orf12):c.165G>A (p.Gly55=) rs201194487
NM_031448.6(C19orf12):c.165G>C (p.Gly55=)
NM_031448.6(C19orf12):c.165G>T (p.Gly55=) rs201194487
NM_031448.6(C19orf12):c.174G>A (p.Gly58=) rs924537910
NM_031448.6(C19orf12):c.174G>T (p.Gly58=)
NM_031448.6(C19orf12):c.177G>T (p.Gly59=)
NM_031448.6(C19orf12):c.189C>T (p.Ala63=) rs2513281894
NM_031448.6(C19orf12):c.204A>T (p.Gly68=) rs1555714878
NM_031448.6(C19orf12):c.240G>T (p.Leu80=) rs766024250
NM_031448.6(C19orf12):c.270C>T (p.Asn90=)
NM_031448.6(C19orf12):c.33G>C (p.Leu11=)
NM_031448.6(C19orf12):c.408G>A (p.Glu136=) rs1485597261
NM_031448.6(C19orf12):c.72T>C (p.Ala24=) rs1398077055
NM_031448.6(C19orf12):c.97C>T (p.Leu33=) rs924400456

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