ClinVar Miner

List of variants studied for Bartsocas-Papas syndrome 1 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter) rs1569100177
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter) rs387906921
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn) rs387906922
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn) rs387906923
NM_020639.3(RIPK4):c.777dup (p.Arg260fs)

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