ClinVar Miner

List of variants in gene SCARB2 reported as pathogenic

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Total variants: 28
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HGVS dbSNP gnomAD frequency
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.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NC_000004.12:g.76163382CT[1]
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) rs780638384
NM_005506.4(SCARB2):c.1016dup (p.His341fs) rs886041077
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
NM_005506.4(SCARB2):c.1114-2A>C rs727502781
NM_005506.4(SCARB2):c.1239+1G>T rs727502772
NM_005506.4(SCARB2):c.1240_1241delAG (p.Ser414fs) rs1178344132
NM_005506.4(SCARB2):c.1258del (p.Glu420fs) rs727502782
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
NM_005506.4(SCARB2):c.1337del (p.Gly446fs) rs796052949
NM_005506.4(SCARB2):c.134del (p.Asn45fs) rs1578733075
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
NM_005506.4(SCARB2):c.235del (p.Glu79fs) rs1732698125
NM_005506.4(SCARB2):c.367dup (p.Gln123fs) rs1553948516
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs) rs2109944333
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.850del (p.Tyr284fs) rs2109942038
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
NM_005506.4(SCARB2):c.956del (p.Leu319fs) rs1732195544

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