ClinVar Miner

List of variants in gene combination GTPBP1, SUN2 reported as benign for cardiomyopathy

Included ClinVar conditions (519):
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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_015374.3(SUN2):c.1824A>G (p.Gln608=) rs1062687 0.36735
NM_015374.3(SUN2):c.2011G>A (p.Gly671Ser) rs2072797 0.08698
NM_015374.3(SUN2):c.1042C>T (p.Arg348Cys) rs138708 0.01579
NM_015374.3(SUN2):c.1356C>T (p.Asp452=) rs138079219 0.01038
NM_015374.3(SUN2):c.1701C>T (p.Tyr567=) rs8138622 0.00894
NM_015374.3(SUN2):c.1132G>A (p.Val378Ile) rs139004902 0.00721
NM_015374.3(SUN2):c.1372C>T (p.Pro458Ser) rs76681049 0.00377
NM_015374.3(SUN2):c.2001C>T (p.Tyr667=) rs146141522 0.00273
NM_015374.3(SUN2):c.1302G>A (p.Ser434=) rs141051927 0.00215
NM_015374.3(SUN2):c.1524G>A (p.Ala508=) rs146770286 0.00142
NM_015374.3(SUN2):c.1663+10C>G rs372134058 0.00058
NM_015374.3(SUN2):c.975C>T (p.His325=) rs201767351 0.00035
NM_015374.3(SUN2):c.1591A>G (p.Ile531Val) rs149140279 0.00021
NM_015374.3(SUN2):c.1896C>T (p.Ala632=) rs112637685 0.00010
NM_015374.3(SUN2):c.1734C>T (p.Gly578=) rs537241816 0.00003
NM_015374.3(SUN2):c.1345G>A (p.Val449Met) rs117350165
NM_015374.3(SUN2):c.1740C>T (p.Pro580=) rs570193292

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