ClinVar Miner

List of variants studied for Krabbe disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000153.4(GALC):c.195+19G>A rs189853941 0.00198
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794 0.00013
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) rs200516260 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000153.4(GALC):c.909-4T>G rs201884281 0.00009
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00006
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys) rs367958957 0.00001
NM_000153.4(GALC):c.582+5G>A rs757016859 0.00001
NM_000153.4(GALC):c.621+1G>A rs759511006 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr) rs759286485
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1577A>G (p.His526Arg) rs2139951434
NM_000153.4(GALC):c.442+4A>G rs753169234
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.581G>C (p.Gly194Ala) rs963756824
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618

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