ClinVar Miner

List of variants in gene LOC129935182, TTN studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) rs727504609 0.00011
NM_001267550.2(TTN):c.106025A>G (p.Tyr35342Cys) rs1060500560 0.00006
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys) rs145560044 0.00006
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=) rs148865574 0.00003
NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro) rs370094513 0.00003
NM_001267550.2(TTN):c.106094G>A (p.Gly35365Asp) rs778524334 0.00003
NM_001267550.2(TTN):c.106134C>A (p.Ala35378=) rs372562222 0.00003
NM_001267550.2(TTN):c.106061A>G (p.Gln35354Arg) rs546343124 0.00002
NM_001267550.2(TTN):c.106083T>C (p.Ile35361=) rs1196945123 0.00002
NM_001267550.2(TTN):c.106152G>A (p.Glu35384=) rs776327038 0.00002
NM_001267550.2(TTN):c.106029G>A (p.Glu35343=) rs985272969 0.00001
NM_001267550.2(TTN):c.106047C>A (p.Leu35349=) rs768200270 0.00001
NM_001267550.2(TTN):c.106055C>G (p.Ser35352Cys) rs746512551 0.00001
NM_001267550.2(TTN):c.106101G>A (p.Thr35367=) rs754154871 0.00001
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs) rs1394131775 0.00001
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys) rs778126842 0.00001
NM_001267550.2(TTN):c.106143T>C (p.Ser35381=) rs961119478 0.00001
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) rs768296130 0.00001
NM_001267550.2(TTN):c.106180A>G (p.Lys35394Glu) rs745753316 0.00001
NM_001267550.2(TTN):c.106006T>G (p.Tyr35336Asp) rs935907208
NM_001267550.2(TTN):c.106015del (p.Asp35339fs) rs1558988204
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser) rs373610666
NM_001267550.2(TTN):c.106019G>C (p.Gly35340Ala)
NM_001267550.2(TTN):c.106019G>T (p.Gly35340Val)
NM_001267550.2(TTN):c.106019del (p.Gly35340fs) rs727504482
NM_001267550.2(TTN):c.106022C>G (p.Thr35341Ser)
NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr)
NM_001267550.2(TTN):c.106045C>A (p.Leu35349Ile) rs1220665174
NM_001267550.2(TTN):c.106046T>C (p.Leu35349Pro)
NM_001267550.2(TTN):c.106049C>T (p.Thr35350Ile) rs1688665396
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.106051G>A (p.Glu35351Lys)
NM_001267550.2(TTN):c.106057G>A (p.Asp35353Asn) rs780037060
NM_001267550.2(TTN):c.106057G>C (p.Asp35353His) rs780037060
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys) rs886055218
NM_001267550.2(TTN):c.106070A>C (p.Tyr35357Ser)
NM_001267550.2(TTN):c.106072G>A (p.Val35358Ile) rs2154132826
NM_001267550.2(TTN):c.106073T>A (p.Val35358Asp) rs1172243981
NM_001267550.2(TTN):c.106075T>C (p.Cys35359Arg)
NM_001267550.2(TTN):c.106078G>C (p.Glu35360Gln)
NM_001267550.2(TTN):c.106087G>A (p.Gly35363Ser)
NM_001267550.2(TTN):c.106091A>G (p.Glu35364Gly) rs1688643496
NM_001267550.2(TTN):c.106092A>C (p.Glu35364Asp)
NM_001267550.2(TTN):c.106102T>C (p.Ser35368Pro) rs1688636055
NM_001267550.2(TTN):c.106103C>G (p.Ser35368Cys)
NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)
NM_001267550.2(TTN):c.106111A>G (p.Asn35371Asp)
NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter) rs778126842
NM_001267550.2(TTN):c.106119A>G (p.Gln35373=)
NM_001267550.2(TTN):c.106126G>A (p.Gly35376Arg)
NM_001267550.2(TTN):c.106127G>T (p.Gly35376Val)
NM_001267550.2(TTN):c.106128G>T (p.Gly35376=)
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly) rs555476312
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.106137_106139dup (p.Phe35379_Lys35380insAsn) rs2154132776
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.106150G>A (p.Glu35384Lys) rs1170470596
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
NM_001267550.2(TTN):c.106179G>C (p.Lys35393Asn)
NM_001267550.2(TTN):c.106184C>T (p.Ser35395Leu)
NM_001267550.2(TTN):c.106186G>A (p.Asp35396Asn)
NM_001267550.2(TTN):c.106188T>A (p.Asp35396Glu) rs770681247
NM_001267550.2(TTN):c.106188T>C (p.Asp35396=) rs770681247
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)

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