ClinVar Miner

List of variants in gene VLDLR reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.-171G>C rs35763266 0.00593
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr) rs34080096 0.00311
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058 0.00223
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=) rs115059319 0.00116
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=) rs6147 0.00088
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578 0.00053
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) rs373943845 0.00026
NM_003383.5(VLDLR):c.2104+5C>T rs201953557 0.00022
NM_003383.5(VLDLR):c.738C>T (p.Cys246=) rs116687040 0.00020
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674 0.00018
NM_003383.5(VLDLR):c.540C>T (p.Ser180=) rs367872112 0.00009
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=) rs372577949 0.00006
NM_003383.5(VLDLR):c.1650G>T (p.Leu550=) rs753725484 0.00006
NM_003383.5(VLDLR):c.1134C>T (p.Tyr378=) rs757143381 0.00003
NM_003383.5(VLDLR):c.2577G>A (p.Thr859=) rs769064973 0.00001
NM_003383.5(VLDLR):c.-296_-277dup
NM_003383.5(VLDLR):c.1053C>T (p.Pro351=)
NM_003383.5(VLDLR):c.1422C>T (p.Leu474=)
NM_003383.5(VLDLR):c.2448C>T (p.Tyr816=)
NM_003383.5(VLDLR):c.516A>T (p.Val172=)
NM_003383.5(VLDLR):c.939A>G (p.Lys313=)
NM_003383.5(VLDLR):c.957G>A (p.Leu319=)

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