ClinVar Miner

List of variants in gene SCARB2 reported as uncertain significance by Ambry Genetics

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005506.4(SCARB2):c.424-4G>A rs368869126 0.00060
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095 0.00041
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473 0.00019
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223 0.00016
NM_005506.4(SCARB2):c.424-5C>T rs192876326 0.00014
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488 0.00012
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe) rs144791636 0.00012
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063 0.00012
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val) rs147142116 0.00011
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706 0.00010
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199 0.00009
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409 0.00006
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr) rs1064794450 0.00005
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser) rs150870503 0.00004
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met) rs148588727 0.00004
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val) rs542349309 0.00003
NM_005506.4(SCARB2):c.863A>G (p.Gln288Arg) rs963202088 0.00003
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile) rs557392749 0.00002
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu) rs370666555 0.00002
NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile) rs770343701 0.00001
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile) rs796052948 0.00001
NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu) rs1560716152 0.00001
NM_005506.4(SCARB2):c.203A>G (p.Asn68Ser) rs1394046858 0.00001
NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala) rs776680365 0.00001
NM_005506.4(SCARB2):c.612+5G>A rs1019363350 0.00001
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val) rs200332825 0.00001
NM_005506.4(SCARB2):c.787G>C (p.Asp263His) rs759410840 0.00001
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu) rs777478545 0.00001
NM_005506.4(SCARB2):c.1059A>G (p.Ile353Met)
NM_005506.4(SCARB2):c.1255A>G (p.Lys419Glu) rs780326859
NM_005506.4(SCARB2):c.1300A>G (p.Ile434Val)
NM_005506.4(SCARB2):c.1316C>T (p.Pro439Leu)
NM_005506.4(SCARB2):c.1406C>T (p.Ala469Val)
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe) rs1560716099
NM_005506.4(SCARB2):c.295A>G (p.Asn99Asp)
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.509C>A (p.Thr170Asn) rs1553948397
NM_005506.4(SCARB2):c.512A>C (p.His171Pro) rs1553948396
NM_005506.4(SCARB2):c.634G>A (p.Asp212Asn)
NM_005506.4(SCARB2):c.83T>A (p.Val28Asp)
NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln) rs752667549
NM_005506.4(SCARB2):c.945G>C (p.Glu315Asp) rs781451422

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