ClinVar Miner

List of variants in gene DSC2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024422.6(DSC2):c.135C>T (p.Ala45=) rs749323567 0.00018
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_024422.6(DSC2):c.2298G>C (p.Gln766His) rs139558481 0.00013
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_024422.6(DSC2):c.2403C>T (p.Gly801=) rs1261715763 0.00001
NM_024422.6(DSC2):c.1239del (p.Asn413fs) rs2144818920
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1888+1G>C rs1986950096
NM_024422.6(DSC2):c.2142G>A (p.Leu714=)
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085

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