ClinVar Miner

List of variants in gene HLCS reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.1893-243C>T rs73210783 0.03676
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_001352514.2(HLCS):c.2122-107C>T rs74993434 0.01462
NM_001352514.2(HLCS):c.493+170G>C rs111843214 0.01432
NM_001352514.2(HLCS):c.2122-330A>G rs114539568 0.01357
NM_001352514.2(HLCS):c.330+88A>G rs7281145 0.01292
NM_001352514.2(HLCS):c.2450+267_2450+268insTA rs373220213 0.01211
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_001352514.2(HLCS):c.1438-271T>C rs115523996 0.01068
NM_001352514.2(HLCS):c.2236+303G>A rs116222192 0.01023
NM_001352514.2(HLCS):c.196-149G>A rs76330918 0.01003
NM_001352514.2(HLCS):c.1893-279A>C rs113804566 0.00992
NM_001352514.2(HLCS):c.2122-35G>A rs148845011 0.00916
NM_001352514.2(HLCS):c.1960+200C>T rs146004582 0.00912
NM_001352514.2(HLCS):c.1438-149G>A rs7283538 0.00723
NM_001352514.2(HLCS):c.2451-46G>A rs8133818 0.00626
NM_001352514.2(HLCS):c.1438-89T>A rs561053531 0.00549
NM_001352514.2(HLCS):c.1437+331T>G rs185741425 0.00536
NM_001352514.2(HLCS):c.2450+97G>A rs565221424 0.00480
NM_001352514.2(HLCS):c.330+317G>A rs188634060 0.00463
NM_001352514.2(HLCS):c.330+44C>G rs185222469 0.00454
NM_000411.8(HLCS):c.-393+9462C>T rs529768803 0.00414
NM_001352514.2(HLCS):c.1620+53A>G rs115593113 0.00368
NM_001352514.2(HLCS):c.1893-6C>T rs139904712 0.00313
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097 0.00191
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166 0.00164
NM_001352514.2(HLCS):c.331-7170T>A rs181989786 0.00091
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) rs200886053 0.00046
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) rs191115811 0.00045
NM_001352514.2(HLCS):c.1621-12T>C rs367728041 0.00032
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842 0.00032
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=) rs189674085 0.00030
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=) rs143393390 0.00024
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126 0.00009
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) rs376903098 0.00008
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln) rs373822815 0.00008
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968 0.00006
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001352514.2(HLCS):c.477A>C (p.Val159=) rs779019472 0.00002
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) rs202028605 0.00001
NM_001352514.2(HLCS):c.*272C>T rs76983917
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=) rs1057523540
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=) rs535891229
NM_001352514.2(HLCS):c.1437+17G>A rs1057520955
NM_001352514.2(HLCS):c.1621-149G>A rs143993094
NM_001352514.2(HLCS):c.1845A>G (p.Val615=) rs1555930182
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1961-179_1961-178del rs149558077
NM_001352514.2(HLCS):c.2237-17T>G rs1320109632
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly) rs755620019
NM_001352514.2(HLCS):c.2450+254dup rs35509622
NM_001352514.2(HLCS):c.2538G>A (p.Gln846=) rs1057522969
NM_001352514.2(HLCS):c.331-8750dup rs149344751
NM_001352514.2(HLCS):c.331-9297C>T rs981348627
NM_001352514.2(HLCS):c.331-9299_331-9298del rs35458660
NM_001352514.2(HLCS):c.414C>T (p.Asp138=) rs1555958227
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001352514.2(HLCS):c.494-25TC[6] rs146532042
NM_001352514.2(HLCS):c.933C>T (p.Ile311=) rs1057523220
NM_001352514.2(HLCS):c.972C>T (p.Gly324=) rs1555956621
NM_001352514.2(HLCS):c.999G>A (p.Leu333=) rs1324605554

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