List of variants in gene LMBRD1 reported as likely pathogenic for homocystinuria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_018368.4(LMBRD1):c.1338+2T>C	rs147270670	0.00007
NM_018368.4(LMBRD1):c.1339-1G>T	rs768709895	0.00002
NM_018368.4(LMBRD1):c.562+1G>A	rs372279393	0.00001
NM_018368.4(LMBRD1):c.1084-1G>A
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1189-1G>A	rs2149843526
NM_018368.4(LMBRD1):c.1338+1G>C
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)	rs764930914
NM_018368.4(LMBRD1):c.307+2del
NM_018368.4(LMBRD1):c.308-1G>A
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)	rs1562112648
NM_018368.4(LMBRD1):c.405+2T>C
NM_018368.4(LMBRD1):c.562+1G>C
NM_018368.4(LMBRD1):c.562+1G>T
NM_018368.4(LMBRD1):c.69+1G>A
NM_018368.4(LMBRD1):c.69+2T>G
NM_018368.4(LMBRD1):c.762+1G>A
NM_018368.4(LMBRD1):c.763-2A>C
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.763-6_771del
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)	rs771477094

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