ClinVar Miner

List of variants in gene SLC7A7 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=) rs1061040 0.78813
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=) rs1805059 0.58210
NM_003982.4(SLC7A7):c.-42-101T>G rs7157654 0.58200
NM_003982.4(SLC7A7):c.-42-50T>A rs3829407 0.58199
NM_001126106.4(SLC7A7):c.-174-488A>G rs8019656 0.57938
NM_003982.4(SLC7A7):c.-42-263_-42-260dup rs10644590 0.57759
NM_003982.4(SLC7A7):c.-86T>C rs2281677 0.55817
NM_003982.4(SLC7A7):c.894+103A>G rs3850290 0.54790
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=) rs8018462 0.53238
NM_003982.4(SLC7A7):c.770+315A>G rs8013531 0.49558
NM_003982.4(SLC7A7):c.500-279T>C rs12433985 0.35988
NM_003982.4(SLC7A7):c.998+113T>A rs3751485 0.21657
NM_003982.4(SLC7A7):c.500-32T>C rs11568429 0.20244
NM_003982.4(SLC7A7):c.895-107T>C rs3829406 0.19688
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=) rs1805061 0.18661
NM_001126105.3(SLC7A7):c.-175+136T>C rs28364570 0.16720
NM_003982.4(SLC7A7):c.1430-55T>C rs11568422 0.16163
NM_001126106.4(SLC7A7):c.-263G>C rs17122772 0.15819
NC_000014.9:g.22819847A>G rs17122779 0.15750
NM_001126106.4(SLC7A7):c.-281T>C rs17122776 0.15729
NM_003982.4(SLC7A7):c.1095+111A>G rs12891079 0.12518
NM_003982.4(SLC7A7):c.1095+181_1095+185del rs368022959 0.10491
NM_003982.4(SLC7A7):c.1095+188_1095+198del rs374608281 0.10487
NM_003982.4(SLC7A7):c.626-158C>A rs10145846 0.05673
NC_000014.9:g.22819830G>A rs116894368 0.05037
NM_003982.4(SLC7A7):c.456C>T (p.Phe152=) rs8016634 0.02915
NM_003982.4(SLC7A7):c.771-260C>T rs113022928 0.02773
NM_003982.4(SLC7A7):c.-42-24T>C rs75482517 0.01943
NM_003982.4(SLC7A7):c.895-114C>T rs77504594 0.01797
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_003982.4(SLC7A7):c.500-67T>C rs11568430 0.01580
NM_003982.4(SLC7A7):c.771-138A>C rs112731447 0.01328
NM_003982.4(SLC7A7):c.998+104C>T rs45467196 0.01286
NM_003982.4(SLC7A7):c.1246-73A>C rs113455952 0.01214
NM_003982.4(SLC7A7):c.*272C>T rs143575981 0.01026
NM_003982.4(SLC7A7):c.1095+275C>T rs79541435 0.00875
NM_003982.4(SLC7A7):c.1095+138C>T rs74036485 0.00753
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=) rs1805062 0.00544
NM_003982.4(SLC7A7):c.*134A>G rs148149467 0.00480
NM_003982.4(SLC7A7):c.1429+52C>A rs11568426 0.00427
NM_003982.4(SLC7A7):c.1245+53C>T rs146569770 0.00424
NM_003982.4(SLC7A7):c.999-75G>A rs111266433 0.00424
NM_003982.4(SLC7A7):c.771-109C>T rs111779384 0.00390
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_003982.4(SLC7A7):c.1095+38C>T rs11568425 0.00047
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe) rs201534081 0.00019
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_003982.4(SLC7A7):c.1281C>T (p.Cys427=) rs763739193 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile) rs368317123 0.00008
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=) rs754387668 0.00008
NM_003982.4(SLC7A7):c.1425C>T (p.Ile475=) rs373156106 0.00006
NM_003982.4(SLC7A7):c.476G>A (p.Arg159His) rs756297612 0.00005
NM_001126106.4(SLC7A7):c.-190A>G rs1325944004 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_003982.4(SLC7A7):c.683T>C (p.Ile228Thr) rs368416948 0.00004
NM_003982.4(SLC7A7):c.1122C>T (p.Cys374=) rs771254387 0.00003
NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn) rs199986641 0.00003
NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=) rs143853134 0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn) rs760849909 0.00003
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=) rs143240690 0.00003
NM_003982.4(SLC7A7):c.681C>T (p.Asp227=) rs774892456 0.00002
NM_003982.4(SLC7A7):c.1201C>T (p.Leu401Phe) rs1425984204 0.00001
NM_003982.4(SLC7A7):c.227G>T (p.Trp76Leu) rs1214135573 0.00001
NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro) rs755890052 0.00001
NM_003982.4(SLC7A7):c.496A>G (p.Ile166Val) rs772892972 0.00001
NM_003982.4(SLC7A7):c.795C>T (p.Ile265=) rs777140678 0.00001
NM_003982.4(SLC7A7):c.966T>C (p.Gly322=) rs780862401 0.00001
NM_001126105.3(SLC7A7):c.-175+3GA[3] rs571279493
NM_003982.4(SLC7A7):c.*145del rs530836172
NM_003982.4(SLC7A7):c.*8C>G rs1057524005
NM_003982.4(SLC7A7):c.1095+211_1095+215del rs10595226
NM_003982.4(SLC7A7):c.1230A>G (p.Arg410=) rs1057523919
NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg) rs1064797037
NM_003982.4(SLC7A7):c.375C>G (p.Leu125=) rs199724860
NM_003982.4(SLC7A7):c.375C>T (p.Leu125=) rs199724860
NM_003982.4(SLC7A7):c.444_446delinsACT (p.Phe148_Pro149delinsLeuLeu) rs2138661858
NM_003982.4(SLC7A7):c.455dup (p.Ala153fs) rs2501974171
NM_003982.4(SLC7A7):c.499+109TA[10] rs58930730
NM_003982.4(SLC7A7):c.499+109TA[11] rs58930730
NM_003982.4(SLC7A7):c.499+109TA[20] rs58930730
NM_003982.4(SLC7A7):c.499+109TA[21] rs58930730
NM_003982.4(SLC7A7):c.499+109TA[22] rs58930730
NM_003982.4(SLC7A7):c.499+109TA[7] rs58930730
NM_003982.4(SLC7A7):c.499+258_499+260del rs10566770
NM_003982.4(SLC7A7):c.499+259_499+260del rs10566770
NM_003982.4(SLC7A7):c.499+260del rs10566770
NM_003982.4(SLC7A7):c.500-149del rs34757325
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_003982.4(SLC7A7):c.770+211dup rs11430909
NM_003982.4(SLC7A7):c.771-147G>T rs17277865

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