ClinVar Miner

List of variants reported as benign for nutritional biotin deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.1893-46G>T rs2073421 0.59296
NM_001352514.2(HLCS):c.1438-36G>A rs2073425 0.55169
NM_001352514.2(HLCS):c.2122-30G>A rs2073420 0.40931
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056 0.40694
NM_000411.7(HLCS):c.-480-12A>G rs115866403 0.33322
NM_000411.8(HLCS):c.-405T>C rs117476389 0.26368
NM_000411.7(HLCS):c.-466A>G rs117138955 0.25759
NM_000411.7(HLCS):c.-471A>G rs118091633 0.25745
NM_000411.8(HLCS):c.-433C>T rs115711809 0.25319
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_001352514.2(HLCS):c.*259T>C rs73398122 0.06633
NM_001352514.2(HLCS):c.*521C>T rs9967991 0.04663
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.1960+16T>A rs73398135 0.03462
NM_000411.8(HLCS):c.-393+11G>T rs557368288 0.02745
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_001352514.2(HLCS):c.*1484A>G rs78926199 0.01946
NM_001352514.2(HLCS):c.*547C>T rs116526486 0.01940
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_001352514.2(HLCS):c.494-13A>G rs76785742 0.00759
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911 0.00722
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
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.2451-19C>T rs78671947 0.00290
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_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524 0.00228
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097 0.00191
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166 0.00164
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_001352514.2(HLCS):c.2121+11T>A rs371974889 0.00105
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_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
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.2151C>T (p.Asn717=) rs148709879 0.00012
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126 0.00009
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.569C>T (p.Pro190Leu) rs534858065 0.00003
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1960+117A>T rs2835455
NM_001352514.2(HLCS):c.2237-7dup
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2451-4del
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001370658.1(BTD):c.-17+13C>G
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.400-8dup rs397514361

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