ClinVar Miner

List of variants in gene combination LOC126806420, 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: 68
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00034
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr) rs374295768 0.00011
NM_001267550.2(TTN):c.99660C>T (p.Tyr33220=) rs763539794 0.00009
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=) rs727505046 0.00005
NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=) rs373085562 0.00005
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=) rs770089807 0.00003
NM_001267550.2(TTN):c.100284C>T (p.Tyr33428=) rs1440086089 0.00003
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=) rs375178211 0.00003
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=) rs727504698 0.00002
NM_001267550.2(TTN):c.99921C>T (p.Ser33307=) rs779347462 0.00002
NM_001267550.2(TTN):c.99945C>T (p.Pro33315=) rs751111629 0.00002
NM_001267550.2(TTN):c.100020A>G (p.Gln33340=) rs375614764 0.00001
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=) rs778478048 0.00001
NM_001267550.2(TTN):c.100197A>G (p.Pro33399=) rs1434554684 0.00001
NM_001267550.2(TTN):c.100359A>C (p.Ser33453=) rs1483003625 0.00001
NM_001267550.2(TTN):c.99702G>A (p.Gln33234=) rs185925881 0.00001
NM_001267550.2(TTN):c.99753T>C (p.Tyr33251=) rs781103653 0.00001
NM_001267550.2(TTN):c.99774T>C (p.Asn33258=) rs758792040 0.00001
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=) rs747130957 0.00001
NM_001267550.2(TTN):c.99909A>G (p.Leu33303=) rs878926568 0.00001
NM_001267550.2(TTN):c.99927G>C (p.Val33309=) rs752424641 0.00001
NM_001267550.2(TTN):c.99954C>T (p.Asp33318=) rs765089470 0.00001
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=) rs749702063 0.00001
NM_001267550.2(TTN):c.99996G>A (p.Glu33332=) rs754693509 0.00001
NM_001267550.2(TTN):c.100021T>C (p.Leu33341=) rs2154137977
NM_001267550.2(TTN):c.100044G>A (p.Val33348=) rs56080118
NM_001267550.2(TTN):c.100059T>C (p.Ile33353=)
NM_001267550.2(TTN):c.100065C>T (p.Asn33355=)
NM_001267550.2(TTN):c.100122C>A (p.Ile33374=) rs779537238
NM_001267550.2(TTN):c.100131T>G (p.Pro33377=) rs1240151281
NM_001267550.2(TTN):c.100171+16T>C
NM_001267550.2(TTN):c.100171+16_100171+17insA rs2154137874
NM_001267550.2(TTN):c.100171+7A>G rs2154137886
NM_001267550.2(TTN):c.100171+9_100171+11del
NM_001267550.2(TTN):c.100172-10del rs397517782
NM_001267550.2(TTN):c.100172-18C>G
NM_001267550.2(TTN):c.100172-9_100172-7del
NM_001267550.2(TTN):c.100185T>C (p.Ala33395=) rs2154137549
NM_001267550.2(TTN):c.100200T>G (p.Thr33400=)
NM_001267550.2(TTN):c.100209T>C (p.Ala33403=)
NM_001267550.2(TTN):c.100248T>C (p.Pro33416=)
NM_001267550.2(TTN):c.100287T>C (p.Leu33429=)
NM_001267550.2(TTN):c.100299G>A (p.Glu33433=) rs879015914
NM_001267550.2(TTN):c.100335A>G (p.Glu33445=) rs770586154
NM_001267550.2(TTN):c.100341T>C (p.Ile33447=)
NM_001267550.2(TTN):c.100362G>A (p.Val33454=)
NM_001267550.2(TTN):c.99636C>G (p.Ser33212=) rs1575326710
NM_001267550.2(TTN):c.99636C>T (p.Ser33212=)
NM_001267550.2(TTN):c.99639A>G (p.Thr33213=) rs755522463
NM_001267550.2(TTN):c.99681C>G (p.Ala33227=)
NM_001267550.2(TTN):c.99693C>T (p.Phe33231=) rs2154138294
NM_001267550.2(TTN):c.99696T>C (p.His33232=)
NM_001267550.2(TTN):c.99709T>C (p.Leu33237=) rs879202597
NM_001267550.2(TTN):c.99756T>G (p.Thr33252=)
NM_001267550.2(TTN):c.99765C>T (p.Val33255=) rs1060503965
NM_001267550.2(TTN):c.99789T>A (p.Thr33263=) rs574923385
NM_001267550.2(TTN):c.99804C>T (p.Tyr33268=) rs2154138223
NM_001267550.2(TTN):c.99810C>A (p.Val33270=) rs564536939
NM_001267550.2(TTN):c.99816C>G (p.Leu33272=)
NM_001267550.2(TTN):c.99879A>G (p.Lys33293=)
NM_001267550.2(TTN):c.99910T>C (p.Leu33304=) rs1162207200
NM_001267550.2(TTN):c.99933C>T (p.Ser33311=) rs780775160
NM_001267550.2(TTN):c.99975C>T (p.Asn33325=)
NM_001267550.2(TTN):c.99978T>C (p.Tyr33326=) rs1280421729

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