ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.*19G>A rs56270417 0.00117
NM_000527.5(LDLR):c.940+16G>A rs72658859 0.00028
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.1586+15C>T rs371716068 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000527.5(LDLR):c.1988-19T>C rs369606726 0.00005
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1987+10G>T rs375846192 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00003
NM_000527.5(LDLR):c.2510A>G (p.His837Arg) rs150631538 0.00003
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe) rs1279368649 0.00002
NM_000527.5(LDLR):c.1060+18C>A rs780579614 0.00001
NM_000527.5(LDLR):c.1186+10G>C rs781336025 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu) rs201967266 0.00001
NM_000527.5(LDLR):c.1587-11C>T rs201957233 0.00001
NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe) rs1555807266 0.00001
NM_000527.5(LDLR):c.2075C>G (p.Pro692Arg) rs1568611894 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.694+8C>T rs370855899 0.00001
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682 0.00001
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.941-5C>T rs750183389 0.00001
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.*18C>T
NM_000527.5(LDLR):c.1037T>C (p.Leu346Pro)
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1186+11G>A rs879254822
NM_000527.5(LDLR):c.1187-14C>T rs1284033782
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) rs752942769
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.130T>C (p.Trp44Arg)
NM_000527.5(LDLR):c.1358+10G>A
NM_000527.5(LDLR):c.1370A>G (p.Asp457Gly)
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr) rs778284147
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn) rs2077416170
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1522A>T (p.Arg508Trp) rs2077420485
NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr) rs879254940
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1587-3C>G
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val) rs2077459948
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.5(LDLR):c.1669A>C (p.Thr557Pro)
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) rs879254985
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1700C>A (p.Thr567Asn) rs1555806098
NM_000527.5(LDLR):c.1721G>C (p.Arg574Pro)
NM_000527.5(LDLR):c.1847A>G (p.Asp616Gly) rs2147264778
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.190+4_190+7del rs2147210820
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.5(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup) rs1131692222
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.262A>T (p.Arg88Trp)
NM_000527.5(LDLR):c.314-16C>G
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.5(LDLR):c.672C>G (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.779A>G (p.Asp260Gly) rs2077300243
NM_000527.5(LDLR):c.781T>C (p.Cys261Arg) rs1372739823
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.95T>C (p.Phe32Ser) rs879254403

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