ClinVar Miner

List of variants studied for UV-sensitive syndrome 3

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu) rs28522910 0.69466
NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter) rs387907163 0.00001
NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg) rs387907164 0.00001
NM_020894.4(UVSSA):c.-2_12dup (p.Leu5fs)
NM_020894.4(UVSSA):c.87del (p.Ile31fs) rs778975867

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