ClinVar Miner

List of variants in gene HLCS reported as likely benign for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
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.1969G>A (p.Gly657Arg) rs75867009 0.00642
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.2362G>A (p.Val788Met) rs150665851 0.00392
NM_001352514.2(HLCS):c.1620+53A>G rs115593113 0.00368
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001352514.2(HLCS):c.1893-6C>T rs139904712 0.00313
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354 0.00232
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.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001352514.2(HLCS):c.570G>A (p.Pro190=) rs780666266 0.00001
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293 0.00001
NM_001352514.2(HLCS):c.*272C>T rs76983917
NM_001352514.2(HLCS):c.130C>G (p.Gln44Glu)
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1621-149G>A rs143993094
NM_001352514.2(HLCS):c.165C>A (p.Gly55=)
NM_001352514.2(HLCS):c.1961-179_1961-178del rs149558077
NM_001352514.2(HLCS):c.2450+254dup rs35509622
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

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