ClinVar Miner

List of variants in gene FANCL, VRK2 studied for Fanconi anemia complementation group L

Included ClinVar conditions (1):
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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.*95A>G rs76348639 0.00754
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_018062.4(FANCL):c.*333A>G rs147811379 0.00076
NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn) rs201610023 0.00004
NM_018062.4(FANCL):c.*515A>C rs971589098 0.00003
NM_018062.4(FANCL):c.1093-19_1093-9dup rs771654902 0.00001
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.*128G>A rs781556579
NM_018062.4(FANCL):c.*165A>C rs866675905
NM_018062.4(FANCL):c.*165A>G rs866675905
NM_018062.4(FANCL):c.*281C>G rs951671744
NM_018062.4(FANCL):c.*434A>G rs1395685917
NM_018062.4(FANCL):c.*89C>T rs1684780470

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