List of variants in gene TULP1 reported as likely pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_003322.6(TULP1):c.1496-6C>A	rs281865171	0.00011
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)	rs770045008	0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	rs62636511	0.00002
NM_003322.6(TULP1):c.1132C>T (p.Arg378Cys)	rs749599096	0.00001
NM_003322.6(TULP1):c.1010T>C (p.Leu337Ser)	rs749227332
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)	rs763272975
NM_003322.6(TULP1):c.1102G>C (p.Gly368Arg)
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	rs387906837
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	rs387906836
NM_003322.6(TULP1):c.1450A>C (p.Thr484Pro)
NM_003322.6(TULP1):c.1550A>G (p.Asp517Gly)
NM_003322.6(TULP1):c.499+5G>T

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