ClinVar Miner

List of variants in gene SBF1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974 0.00612
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708 0.00425
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_002972.4(SBF1):c.1668T>C (p.His556=) rs139208738 0.00257
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_002972.4(SBF1):c.3904+5C>G rs115032856 0.00233
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr) rs201776298 0.00222
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206 0.00205
NM_002972.4(SBF1):c.615C>T (p.Pro205=) rs373623627 0.00194
NM_002972.4(SBF1):c.2079C>T (p.His693=) rs199672732 0.00188
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561 0.00144
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=) rs144773853 0.00131
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_002972.4(SBF1):c.3856C>T (p.Leu1286=) rs139035064 0.00100
NM_002972.4(SBF1):c.2784C>T (p.Ala928=) rs182040598 0.00092
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_002972.4(SBF1):c.898-4G>A rs377428323 0.00088
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_002972.4(SBF1):c.5630C>T (p.Pro1877Leu) rs200103683 0.00077
NM_002972.4(SBF1):c.2034G>A (p.Thr678=) rs139798340 0.00066
NM_002972.4(SBF1):c.5427C>T (p.Phe1809=) rs368282563 0.00065
NM_002972.4(SBF1):c.2569+4C>T rs200379541 0.00039
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945 0.00036
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973 0.00033
NM_002972.4(SBF1):c.4977C>T (p.Arg1659=) rs190945041 0.00031
NM_002972.4(SBF1):c.3147-8G>C rs182956712 0.00030
NM_002972.4(SBF1):c.4203C>T (p.Pro1401=) rs557575486 0.00028
NM_002972.4(SBF1):c.3018C>T (p.Leu1006=) rs374823102 0.00026
NM_002972.4(SBF1):c.2697C>A (p.Gly899=) rs374888082 0.00024
NM_002972.4(SBF1):c.4539G>C (p.Leu1513=) rs374064130 0.00024
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_002972.4(SBF1):c.4612G>A (p.Gly1538Ser) rs200471909 0.00023
NM_002972.4(SBF1):c.5676C>T (p.Asp1892=) rs372332373 0.00023
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile) rs201061231 0.00022
NM_002972.4(SBF1):c.1637-5C>T rs377462059 0.00019
NM_002972.4(SBF1):c.1803C>T (p.Leu601=) rs372396420 0.00016
NM_002972.4(SBF1):c.2502G>A (p.Val834=) rs201203951 0.00016
NM_002972.4(SBF1):c.3808G>A (p.Ala1270Thr) rs200910134 0.00013
NM_002972.4(SBF1):c.834C>T (p.Leu278=) rs377479447 0.00013
NM_002972.4(SBF1):c.3231C>T (p.Ser1077=) rs758221298 0.00011
NM_002972.4(SBF1):c.5229C>T (p.Pro1743=) rs201402818 0.00010
NM_002972.4(SBF1):c.5673G>A (p.Ser1891=) rs767764447 0.00009
NM_002972.4(SBF1):c.3772G>A (p.Ala1258Thr) rs370712299 0.00008
NM_002972.4(SBF1):c.1677C>T (p.Ser559=) rs201649082 0.00005
NM_002972.4(SBF1):c.3801C>T (p.Phe1267=) rs536216296 0.00004
NM_002972.4(SBF1):c.4708C>T (p.Arg1570Cys) rs375660466 0.00004
NM_002972.4(SBF1):c.5153G>A (p.Gly1718Asp) rs376937027 0.00004
NM_002972.4(SBF1):c.2256G>A (p.Thr752=) rs377099628 0.00003
NM_002972.4(SBF1):c.1642A>G (p.Ile548Val) rs374844148 0.00002
NM_002972.4(SBF1):c.2871G>A (p.Pro957=) rs757816344 0.00002
NM_002972.4(SBF1):c.4269C>T (p.Ile1423=) rs370634606 0.00002
NM_002972.4(SBF1):c.4493T>C (p.Leu1498Pro) rs753856952 0.00002
NM_002972.4(SBF1):c.4640G>A (p.Arg1547Gln) rs753384436 0.00002
NM_002972.4(SBF1):c.1299G>C (p.Gly433=) rs377074208 0.00001
NM_002972.4(SBF1):c.3572G>A (p.Arg1191His) rs746155908 0.00001
NM_002972.4(SBF1):c.4725G>A (p.Pro1575=) rs778315437 0.00001
NM_002972.4(SBF1):c.1384C>T (p.Arg462Cys)
NM_002972.4(SBF1):c.1450G>A (p.Val484Met)
NM_002972.4(SBF1):c.1533C>T (p.Gly511=)
NM_002972.4(SBF1):c.1582C>T (p.Pro528Ser)
NM_002972.4(SBF1):c.1661G>A (p.Gly554Glu)
NM_002972.4(SBF1):c.1899+3G>A rs1044737001
NM_002972.4(SBF1):c.1968G>A (p.Arg656=) rs1603433117
NM_002972.4(SBF1):c.2088C>T (p.Ala696=)
NM_002972.4(SBF1):c.22T>G (p.Phe8Val)
NM_002972.4(SBF1):c.2317A>G (p.Ser773Gly) rs1603432969
NM_002972.4(SBF1):c.2529C>T (p.Val843=)
NM_002972.4(SBF1):c.2663G>A (p.Arg888His) rs201519518
NM_002972.4(SBF1):c.2829G>T (p.Thr943=)
NM_002972.4(SBF1):c.3056A>C (p.Asp1019Ala)
NM_002972.4(SBF1):c.3492-1G>T rs1057519117
NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_002972.4(SBF1):c.3919G>A (p.Val1307Ile)
NM_002972.4(SBF1):c.426G>A (p.Thr142=)
NM_002972.4(SBF1):c.4592A>C (p.Gln1531Pro) rs1019524339
NM_002972.4(SBF1):c.4752C>T (p.Asp1584=)
NM_002972.4(SBF1):c.5031A>C (p.Ser1677=)
NM_002972.4(SBF1):c.5195G>A (p.Arg1732His) rs901723487
NM_002972.4(SBF1):c.5297G>A (p.Arg1766His)
NM_002972.4(SBF1):c.5434G>C (p.Asp1812His) rs1057519116
NM_002972.4(SBF1):c.5507C>T (p.Ala1836Val) rs373534319
NM_002972.4(SBF1):c.597A>G (p.Pro199=) rs373887418
NM_002972.4(SBF1):c.610C>G (p.Leu204Val)
NM_002972.4(SBF1):c.738C>T (p.Leu246=) rs374299843

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