ClinVar Miner

List of variants in gene combination LOC126806421, TTN reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
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_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001267550.2(TTN):c.96051A>G (p.Ala32017=) rs367805587 0.00008
NM_001267550.2(TTN):c.96873T>C (p.Thr32291=) rs368169892 0.00007
NM_001267550.2(TTN):c.96904+13T>G rs779376692 0.00006
NM_001267550.2(TTN):c.96189C>T (p.Thr32063=) rs544886477 0.00004
NM_001267550.2(TTN):c.96225T>A (p.Val32075=) rs752745266 0.00004
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=) rs200999706 0.00004
NM_001267550.2(TTN):c.96310+11T>C rs397517764 0.00003
NM_001267550.2(TTN):c.96384T>C (p.Ile32128=) rs757368075 0.00003
NM_001267550.2(TTN):c.96399T>C (p.Gly32133=) rs371827750 0.00003
NM_001267550.2(TTN):c.96525C>T (p.Tyr32175=) rs778126823 0.00003
NM_001267550.2(TTN):c.96906G>A (p.Val32302=) rs200276343 0.00003
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=) rs771385738 0.00003
NM_001267550.2(TTN):c.96420C>T (p.Tyr32140=) rs1009407656 0.00002
NM_001267550.2(TTN):c.96060A>G (p.Leu32020=) rs1172164559 0.00001
NM_001267550.2(TTN):c.96311-4T>C rs1553518208 0.00001
NM_001267550.2(TTN):c.96315T>G (p.Thr32105=) rs727503540 0.00001
NM_001267550.2(TTN):c.96336G>T (p.Val32112=) rs964067201 0.00001
NM_001267550.2(TTN):c.96615G>A (p.Val32205=) rs763674509 0.00001
NM_001267550.2(TTN):c.96654T>C (p.Thr32218=) rs774339567 0.00001
NM_001267550.2(TTN):c.96717C>T (p.Leu32239=) rs1317384618 0.00001
NM_001267550.2(TTN):c.96834G>A (p.Arg32278=) rs558927011 0.00001
NM_001267550.2(TTN):c.96837A>C (p.Ala32279=) rs1232489828 0.00001
NM_001267550.2(TTN):c.96042T>G (p.Leu32014=) rs2154144025
NM_001267550.2(TTN):c.96069T>G (p.Thr32023=)
NM_001267550.2(TTN):c.96075C>T (p.Thr32025=)
NM_001267550.2(TTN):c.96084T>C (p.Ala32028=) rs1553518744
NM_001267550.2(TTN):c.96090C>T (p.Ala32030=) rs1575420522
NM_001267550.2(TTN):c.96096G>A (p.Leu32032=) rs1197841768
NM_001267550.2(TTN):c.96117T>C (p.Ser32039=)
NM_001267550.2(TTN):c.96141G>A (p.Thr32047=) rs752553035
NM_001267550.2(TTN):c.96153G>A (p.Gln32051=)
NM_001267550.2(TTN):c.96189C>G (p.Thr32063=) rs544886477
NM_001267550.2(TTN):c.96228T>C (p.Asn32076=)
NM_001267550.2(TTN):c.96229C>A (p.Arg32077=) rs751316145
NM_001267550.2(TTN):c.96252A>T (p.Thr32084=) rs369626133
NM_001267550.2(TTN):c.96270A>G (p.Gln32090=) rs2154143870
NM_001267550.2(TTN):c.96297T>C (p.Leu32099=)
NM_001267550.2(TTN):c.96310+20T>C
NM_001267550.2(TTN):c.96311-16_96311-15del
NM_001267550.2(TTN):c.96311-20T>A
NM_001267550.2(TTN):c.96311-20T>G
NM_001267550.2(TTN):c.96311-9G>A rs2154143671
NM_001267550.2(TTN):c.96411C>G (p.Val32137=) rs1329249610
NM_001267550.2(TTN):c.96414C>T (p.Asn32138=) rs933403975
NM_001267550.2(TTN):c.96417T>C (p.Asn32139=)
NM_001267550.2(TTN):c.96423C>T (p.Ile32141=) rs1356358644
NM_001267550.2(TTN):c.96453A>G (p.Ala32151=)
NM_001267550.2(TTN):c.96468T>G (p.Thr32156=) rs2154143561
NM_001267550.2(TTN):c.96507T>C (p.Leu32169=)
NM_001267550.2(TTN):c.96519C>T (p.Thr32173=)
NM_001267550.2(TTN):c.96537G>A (p.Val32179=) rs2154143503
NM_001267550.2(TTN):c.96540G>C (p.Leu32180=) rs754837315
NM_001267550.2(TTN):c.96555T>C (p.Tyr32185=) rs1575412584
NM_001267550.2(TTN):c.96570T>C (p.Pro32190=) rs1223460802
NM_001267550.2(TTN):c.96588A>G (p.Ala32196=)
NM_001267550.2(TTN):c.96610T>C (p.Leu32204=) rs1419384451
NM_001267550.2(TTN):c.96618T>C (p.Pro32206=) rs1553517635
NM_001267550.2(TTN):c.96681C>G (p.Leu32227=)
NM_001267550.2(TTN):c.96708A>T (p.Gly32236=) rs752066259
NM_001267550.2(TTN):c.96711T>C (p.Tyr32237=)
NM_001267550.2(TTN):c.96720G>A (p.Glu32240=)
NM_001267550.2(TTN):c.96723C>G (p.Ala32241=) rs1223885458
NM_001267550.2(TTN):c.96756T>C (p.Val32252=) rs752935152
NM_001267550.2(TTN):c.96774A>G (p.Thr32258=)
NM_001267550.2(TTN):c.96789T>A (p.Thr32263=)
NM_001267550.2(TTN):c.96798C>A (p.Ser32266=)
NM_001267550.2(TTN):c.96816A>G (p.Gln32272=) rs2154143321
NM_001267550.2(TTN):c.96819C>T (p.Tyr32273=)
NM_001267550.2(TTN):c.96837A>T (p.Ala32279=) rs1232489828
NM_001267550.2(TTN):c.96840A>G (p.Gln32280=) rs776900012
NM_001267550.2(TTN):c.96852T>C (p.Gly32284=)
NM_001267550.2(TTN):c.96858A>G (p.Ser32286=) rs1035330963
NM_001267550.2(TTN):c.96879A>C (p.Thr32293=) rs373707659
NM_001267550.2(TTN):c.96879A>G (p.Thr32293=) rs373707659
NM_001267550.2(TTN):c.96882C>T (p.Ala32294=)
NM_001267550.2(TTN):c.96897C>T (p.Asp32299=)
NM_001267550.2(TTN):c.96904+10A>G
NM_001267550.2(TTN):c.96904+13T>C
NM_001267550.2(TTN):c.96904+17C>A
NM_001267550.2(TTN):c.96904+8C>A rs528358945
NM_001267550.2(TTN):c.96905-20G>A

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