ClinVar Miner

List of variants in gene combination SPECC1L, SPECC1L-ADORA2A reported as likely benign for not provided

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe) rs56168869 0.00780
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His) rs55723436 0.00543
NM_015330.6(SPECC1L):c.293C>T (p.Ser98Phe) rs35783914 0.00439
NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=) rs143055101 0.00343
NM_015330.6(SPECC1L):c.153+5T>G rs143374533 0.00265
NM_015330.6(SPECC1L):c.2882C>T (p.Ala961Val) rs5996694 0.00233
NM_015330.6(SPECC1L):c.310A>G (p.Thr104Ala) rs140178777 0.00211
NM_015330.6(SPECC1L):c.2886G>A (p.Ser962=) rs139166286 0.00149
NM_015330.6(SPECC1L):c.2149A>G (p.Thr717Ala) rs6004132 0.00133
NM_015330.6(SPECC1L):c.2004G>A (p.Thr668=) rs147450336 0.00082
NM_015330.6(SPECC1L):c.496A>G (p.Met166Val) rs199673620 0.00047
NM_015330.6(SPECC1L):c.1142G>A (p.Arg381Gln) rs200327822 0.00031
NM_015330.6(SPECC1L):c.2003C>T (p.Thr668Met) rs143004795 0.00028
NM_015330.6(SPECC1L):c.887C>T (p.Pro296Leu) rs144609692 0.00025
NM_015330.6(SPECC1L):c.2178C>T (p.His726=) rs143769364 0.00021
NM_015330.6(SPECC1L):c.3310G>A (p.Val1104Met) rs150590695 0.00021
NM_015330.6(SPECC1L):c.1399C>T (p.Arg467Cys) rs145506280 0.00016
NM_015330.6(SPECC1L):c.2560+13T>C rs186584776 0.00013
NM_015330.6(SPECC1L):c.489C>T (p.Asp163=) rs145183243 0.00013
NM_015330.6(SPECC1L):c.470G>A (p.Arg157Gln) rs201337978 0.00011
NM_015330.6(SPECC1L):c.1459C>T (p.Arg487Cys) rs200189237 0.00010
NM_015330.6(SPECC1L):c.3144C>T (p.Ala1048=) rs766838677 0.00008
NM_015330.6(SPECC1L):c.2701C>T (p.Leu901=) rs200930433 0.00007
NM_015330.6(SPECC1L):c.59C>T (p.Thr20Met) rs144546045 0.00006
NM_015330.6(SPECC1L):c.2397-8A>G rs761359893 0.00004
NM_015330.6(SPECC1L):c.3246C>T (p.Val1082=) rs749224759 0.00004
NM_015330.6(SPECC1L):c.2653-9T>C rs761352745 0.00001
NM_015330.6(SPECC1L):c.3288T>C (p.Thr1096=) rs778942594 0.00001
NM_015330.6(SPECC1L):c.45T>C (p.Ser15=) rs202073203 0.00001
NM_015330.6(SPECC1L):c.-37-8T>C
NM_015330.6(SPECC1L):c.1103C>T (p.Ser368Phe)
NM_015330.6(SPECC1L):c.1104C>T (p.Ser368=)
NM_015330.6(SPECC1L):c.1110G>A (p.Glu370=)
NM_015330.6(SPECC1L):c.1407T>G (p.Leu469=)
NM_015330.6(SPECC1L):c.1466T>C (p.Met489Thr)
NM_015330.6(SPECC1L):c.1508G>A (p.Arg503His)
NM_015330.6(SPECC1L):c.154-1314C>T
NM_015330.6(SPECC1L):c.154-18A>G
NM_015330.6(SPECC1L):c.1580A>T (p.Asn527Ile)
NM_015330.6(SPECC1L):c.1671C>T (p.Ala557=)
NM_015330.6(SPECC1L):c.1743T>C (p.Ala581=)
NM_015330.6(SPECC1L):c.1833T>C (p.Ser611=) rs1601553466
NM_015330.6(SPECC1L):c.1894C>A (p.His632Asn)
NM_015330.6(SPECC1L):c.1995G>A (p.Leu665=) rs1601555227
NM_015330.6(SPECC1L):c.201G>A (p.Thr67=)
NM_015330.6(SPECC1L):c.2068A>G (p.Ile690Val)
NM_015330.6(SPECC1L):c.2091A>G (p.Val697=)
NM_015330.6(SPECC1L):c.2259C>G (p.Leu753=)
NM_015330.6(SPECC1L):c.2307G>A (p.Glu769=)
NM_015330.6(SPECC1L):c.2327G>A (p.Arg776His) rs199964360
NM_015330.6(SPECC1L):c.2396+10G>A
NM_015330.6(SPECC1L):c.240A>G (p.Pro80=)
NM_015330.6(SPECC1L):c.2483G>A (p.Ser828Asn)
NM_015330.6(SPECC1L):c.2505A>G (p.Ser835=)
NM_015330.6(SPECC1L):c.2560+17A>G
NM_015330.6(SPECC1L):c.2561-16T>C
NM_015330.6(SPECC1L):c.2561-17G>A rs2146532468
NM_015330.6(SPECC1L):c.2613T>C (p.Pro871=)
NM_015330.6(SPECC1L):c.2674A>G (p.Ile892Val) rs150495486
NM_015330.6(SPECC1L):c.2744-17C>A
NM_015330.6(SPECC1L):c.279C>T (p.Thr93=) rs147849517
NM_015330.6(SPECC1L):c.2827+8C>G rs201412778
NM_015330.6(SPECC1L):c.2885C>T (p.Ser962Leu)
NM_015330.6(SPECC1L):c.2952A>T (p.Ala984=)
NM_015330.6(SPECC1L):c.2985-11C>T
NM_015330.6(SPECC1L):c.3081C>T (p.Gly1027=)
NM_015330.6(SPECC1L):c.3205-7T>C
NM_015330.6(SPECC1L):c.3217A>T (p.Met1073Leu)
NM_015330.6(SPECC1L):c.3265-19C>T
NM_015330.6(SPECC1L):c.3326C>T (p.Thr1109Met) rs1247798129
NM_015330.6(SPECC1L):c.362C>T (p.Ser121Phe)
NM_015330.6(SPECC1L):c.393A>T (p.Arg131=)
NM_015330.6(SPECC1L):c.399C>T (p.Asn133=)
NM_015330.6(SPECC1L):c.490G>A (p.Val164Ile)
NM_015330.6(SPECC1L):c.494G>A (p.Arg165His)
NM_015330.6(SPECC1L):c.569C>T (p.Thr190Met)
NM_015330.6(SPECC1L):c.588C>T (p.Asp196=)
NM_015330.6(SPECC1L):c.60G>T (p.Thr20=)
NM_015330.6(SPECC1L):c.642C>T (p.Gly214=)
NM_015330.6(SPECC1L):c.694A>G (p.Met232Val)
NM_015330.6(SPECC1L):c.707C>T (p.Pro236Leu)
NM_015330.6(SPECC1L):c.723C>T (p.Ser241=)
NM_015330.6(SPECC1L):c.867T>G (p.Phe289Leu)
NM_015330.6(SPECC1L):c.895A>G (p.Thr299Ala)
NM_015330.6(SPECC1L):c.904A>C (p.Asn302His) rs2146478907

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