List of variants in gene SPINT2 studied for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 154

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HGVS	dbSNP	gnomAD frequency
NM_021102.4(SPINT2):c.107-301A>G	rs2060243	0.38593
NM_021102.4(SPINT2):c.-127C>G	rs1046773	0.23321
NM_021102.4(SPINT2):c.106+226C>T	rs3786870	0.23310
NM_021102.4(SPINT2):c.337+42A>G	rs8104823	0.13200
NM_021102.4(SPINT2):c.106+107C>T	rs112797649	0.07474
NM_021102.4(SPINT2):c.598G>C (p.Val200Leu)	rs11548457	0.02713
NM_021102.4(SPINT2):c.277+7T>C	rs113839543	0.01240
NM_021102.4(SPINT2):c.592+3A>G	rs111990687	0.00365
NM_021102.4(SPINT2):c.698G>A (p.Arg233His)	rs115746965	0.00290
NM_021102.4(SPINT2):c.331C>T (p.Pro111Ser)	rs141683432	0.00190
NM_021102.4(SPINT2):c.639G>C (p.Leu213=)	rs149527577	0.00162
NM_021102.4(SPINT2):c.606G>A (p.Ala202=)	rs76692070	0.00116
NM_021102.4(SPINT2):c.715G>A (p.Gly239Arg)	rs143567268	0.00097
NM_021102.4(SPINT2):c.46C>T (p.Leu16=)	rs367656580	0.00040
NM_021102.4(SPINT2):c.554-16G>A	rs369303695	0.00038
NM_021102.4(SPINT2):c.545G>A (p.Arg182His)	rs142695577	0.00034
NM_021102.4(SPINT2):c.391+13A>G	rs371302405	0.00019
NM_021102.4(SPINT2):c.722A>G (p.Asp241Gly)	rs201655952	0.00019
NM_021102.4(SPINT2):c.488A>G (p.Tyr163Cys)	rs121908403	0.00014
NM_021102.4(SPINT2):c.697C>T (p.Arg233Cys)	rs142877026	0.00013
NM_021102.4(SPINT2):c.615C>G (p.Phe205Leu)	rs372451580	0.00012
NM_021102.4(SPINT2):c.377T>C (p.Met126Thr)	rs567336942	0.00009
NM_021102.4(SPINT2):c.407A>G (p.Asn136Ser)	rs911317656	0.00009
NM_021102.4(SPINT2):c.703G>A (p.Val235Ile)	rs200600070	0.00008
NM_021102.4(SPINT2):c.129G>A (p.Val43=)	rs777327266	0.00007
NM_021102.4(SPINT2):c.337+20C>T	rs759143848	0.00007
NM_021102.4(SPINT2):c.337+5G>A	rs775823776	0.00007
NM_021102.4(SPINT2):c.509A>G (p.Lys170Arg)	rs201264028	0.00007
NM_021102.4(SPINT2):c.266C>T (p.Ala89Val)	rs200143906	0.00006
NM_021102.4(SPINT2):c.546C>T (p.Arg182=)	rs201542510	0.00006
NM_021102.4(SPINT2):c.554-7C>T	rs373006737	0.00006
NM_021102.4(SPINT2):c.593-9C>T	rs538522427	0.00006
NM_021102.4(SPINT2):c.663C>A (p.Ile221=)	rs377497678	0.00006
NM_021102.4(SPINT2):c.151A>G (p.Met51Val)	rs202094610	0.00004
NM_021102.4(SPINT2):c.392-15C>T	rs376086427	0.00004
NM_021102.4(SPINT2):c.592+20C>T	rs572380002	0.00004
NM_021102.4(SPINT2):c.605C>T (p.Ala202Val)	rs551764131	0.00004
NM_021102.4(SPINT2):c.406A>G (p.Asn136Asp)	rs1195665162	0.00003
NM_021102.4(SPINT2):c.702C>T (p.Thr234=)	rs774389164	0.00003
NM_021102.4(SPINT2):c.107-10C>T	rs200870624	0.00002
NM_021102.4(SPINT2):c.553+11A>G	rs368915701	0.00002
NM_021102.4(SPINT2):c.674G>A (p.Arg225Gln)	rs778192968	0.00002
NM_021102.4(SPINT2):c.141C>T (p.Cys47=)	rs190085217	0.00001
NM_021102.4(SPINT2):c.168C>T (p.Tyr56=)	rs767551161	0.00001
NM_021102.4(SPINT2):c.170A>G (p.Asn57Ser)	rs143771318	0.00001
NM_021102.4(SPINT2):c.171T>C (p.Asn57=)	rs755846896	0.00001
NM_021102.4(SPINT2):c.216C>T (p.Asp72=)	rs756781647	0.00001
NM_021102.4(SPINT2):c.277+18G>A	rs765086874	0.00001
NM_021102.4(SPINT2):c.393A>G (p.Glu131=)	rs759003195	0.00001
NM_021102.4(SPINT2):c.400A>G (p.Thr134Ala)	rs373217031	0.00001
NM_021102.4(SPINT2):c.474C>T (p.Cys158=)	rs1255750053	0.00001
NM_021102.4(SPINT2):c.533C>T (p.Ala178Val)	rs566177111	0.00001
NM_021102.4(SPINT2):c.544C>T (p.Arg182Cys)	rs768138591	0.00001
NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys)	rs781030322	0.00001
NM_021102.4(SPINT2):c.587C>T (p.Ser196Leu)	rs1232997970	0.00001
NM_021102.4(SPINT2):c.593-15C>G	rs1968722610	0.00001
NM_021102.4(SPINT2):c.5C>T (p.Ala2Val)	rs1462711019	0.00001
NM_021102.4(SPINT2):c.673C>T (p.Arg225Trp)	rs576047179	0.00001
NM_021102.4(SPINT2):c.689G>A (p.Arg230His)	rs544029586	0.00001
NM_021102.4(SPINT2):c.91G>A (p.Glu31Lys)	rs1968360344	0.00001
NC_000019.9:g.(?_38755533)_(38755658_?)del
NM_021102.4(SPINT2):c.106+10G>C
NM_021102.4(SPINT2):c.106+20del
NM_021102.4(SPINT2):c.107-19G>A
NM_021102.4(SPINT2):c.120G>A (p.Val40=)	rs2146274899
NM_021102.4(SPINT2):c.123G>C (p.Ser41=)
NM_021102.4(SPINT2):c.130G>A (p.Val44Met)
NM_021102.4(SPINT2):c.142C>T (p.Arg48Trp)
NM_021102.4(SPINT2):c.143G>A (p.Arg48Gln)
NM_021102.4(SPINT2):c.144G>T (p.Arg48=)
NM_021102.4(SPINT2):c.177T>C (p.Thr59=)
NM_021102.4(SPINT2):c.180C>T (p.Asp60=)
NM_021102.4(SPINT2):c.186C>A (p.Ser62=)
NM_021102.4(SPINT2):c.191A>G (p.Gln64Arg)
NM_021102.4(SPINT2):c.1A>G (p.Met1Val)
NM_021102.4(SPINT2):c.222C>T (p.Asn74=)
NM_021102.4(SPINT2):c.235C>G (p.Leu79Val)	rs769191493
NM_021102.4(SPINT2):c.235C>T (p.Leu79=)
NM_021102.4(SPINT2):c.240C>G (p.Thr80=)	rs112235785
NM_021102.4(SPINT2):c.246G>C (p.Glu82Asp)	rs748665791
NM_021102.4(SPINT2):c.277+10C>T
NM_021102.4(SPINT2):c.277+18_277+29del
NM_021102.4(SPINT2):c.277+2dup
NM_021102.4(SPINT2):c.277+3G>T
NM_021102.4(SPINT2):c.278-16C>G
NM_021102.4(SPINT2):c.278-20G>A	rs924108835
NM_021102.4(SPINT2):c.278-2A>G
NM_021102.4(SPINT2):c.278-8C>T
NM_021102.4(SPINT2):c.288G>A (p.Thr96=)
NM_021102.4(SPINT2):c.288G>T (p.Thr96=)
NM_021102.4(SPINT2):c.292G>A (p.Asp98Asn)
NM_021102.4(SPINT2):c.330C>G (p.Val110=)
NM_021102.4(SPINT2):c.338-14T>C
NM_021102.4(SPINT2):c.338-17A>G
NM_021102.4(SPINT2):c.342del (p.Arg115fs)
NM_021102.4(SPINT2):c.356C>G (p.Ser119Cys)	rs1182254805
NM_021102.4(SPINT2):c.387T>C (p.Tyr129=)	rs2146278816
NM_021102.4(SPINT2):c.391+10C>T
NM_021102.4(SPINT2):c.391+16G>A
NM_021102.4(SPINT2):c.391+17G>A
NM_021102.4(SPINT2):c.391+17G>T
NM_021102.4(SPINT2):c.391+2T>C	rs2146278822
NM_021102.4(SPINT2):c.392-4C>T
NM_021102.4(SPINT2):c.396C>T (p.Tyr132=)
NM_021102.4(SPINT2):c.399C>T (p.Cys133=)
NM_021102.4(SPINT2):c.3G>A (p.Met1Ile)	rs1968358471
NM_021102.4(SPINT2):c.402C>T (p.Thr134=)
NM_021102.4(SPINT2):c.408C>T (p.Asn136=)	rs368856630
NM_021102.4(SPINT2):c.409G>A (p.Ala137Thr)
NM_021102.4(SPINT2):c.40C>T (p.Leu14Phe)	rs1386633374
NM_021102.4(SPINT2):c.413T>C (p.Val138Ala)	rs2146279781
NM_021102.4(SPINT2):c.417T>G (p.Thr139=)
NM_021102.4(SPINT2):c.438C>G (p.Phe146Leu)	rs200998013
NM_021102.4(SPINT2):c.442C>T (p.Arg148Cys)
NM_021102.4(SPINT2):c.447G>T (p.Trp149Cys)
NM_021102.4(SPINT2):c.453T>C (p.Phe151=)
NM_021102.4(SPINT2):c.456C>T (p.Asp152=)	rs373558499
NM_021102.4(SPINT2):c.45C>T (p.Ala15=)
NM_021102.4(SPINT2):c.500G>A (p.Arg167Gln)
NM_021102.4(SPINT2):c.553+13C>T
NM_021102.4(SPINT2):c.553+15C>T
NM_021102.4(SPINT2):c.553+18C>T
NM_021102.4(SPINT2):c.553+1G>A
NM_021102.4(SPINT2):c.553+3A>C	rs879204046
NM_021102.4(SPINT2):c.592+15A>G
NM_021102.4(SPINT2):c.592+17C>T
NM_021102.4(SPINT2):c.592+18C>T
NM_021102.4(SPINT2):c.592+8G>A
NM_021102.4(SPINT2):c.593-11C>G
NM_021102.4(SPINT2):c.593-11C>T
NM_021102.4(SPINT2):c.593-12T>C
NM_021102.4(SPINT2):c.593-13C>G
NM_021102.4(SPINT2):c.593-16C>T
NM_021102.4(SPINT2):c.593-17C>G
NM_021102.4(SPINT2):c.593-18C>G
NM_021102.4(SPINT2):c.593-2_593del	rs2146281066
NM_021102.4(SPINT2):c.593-8G>A
NM_021102.4(SPINT2):c.601C>T (p.Leu201=)	rs2146281080
NM_021102.4(SPINT2):c.604G>A (p.Ala202Thr)
NM_021102.4(SPINT2):c.606G>T (p.Ala202=)
NM_021102.4(SPINT2):c.654C>G (p.Val218=)
NM_021102.4(SPINT2):c.654C>T (p.Val218=)
NM_021102.4(SPINT2):c.664C>T (p.Arg222Trp)
NM_021102.4(SPINT2):c.693C>A (p.Ala231=)
NM_021102.4(SPINT2):c.696G>T (p.Leu232=)
NM_021102.4(SPINT2):c.699C>A (p.Arg233=)
NM_021102.4(SPINT2):c.705C>A (p.Val235=)
NM_021102.4(SPINT2):c.714C>T (p.Ser238=)
NM_021102.4(SPINT2):c.729G>A (p.Glu243=)	rs199831478
NM_021102.4(SPINT2):c.756G>A (p.Leu252=)
NM_021102.4(SPINT2):c.75C>A (p.Val25=)
NM_021102.4(SPINT2):c.81G>T (p.Ala27=)
NM_021102.4(SPINT2):c.86A>G (p.Asp29Gly)
NM_021102.4(SPINT2):c.88C>A (p.Arg30=)

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