ClinVar Miner

List of variants in gene HMBS reported as uncertain significance for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621 0.00051
NM_000190.4(HMBS):c.*101G>A rs565181447 0.00033
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) rs142459647 0.00023
NM_000190.4(HMBS):c.798C>T (p.Ala266=) rs375078473 0.00008
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) rs148084355 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000190.4(HMBS):c.737G>A (p.Arg246His) rs201909197 0.00005
NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp) rs769409620 0.00004
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) rs767103817 0.00004
NM_000190.4(HMBS):c.885G>A (p.Met295Ile) rs749688624 0.00004
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser) rs746707121 0.00004
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln) rs781674367 0.00004
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys) rs761810461 0.00003
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) rs368061837 0.00002
NM_000190.4(HMBS):c.64C>T (p.Arg22Cys) rs189159450 0.00002
NM_000190.4(HMBS):c.*194A>G rs886047756 0.00001
NM_000190.4(HMBS):c.345-9C>T rs772934410 0.00001
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) rs1165046276 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.768C>A (p.His256Gln) rs758794172 0.00001
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252 0.00001
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser) rs772616498 0.00001
NM_000190.4(HMBS):c.*153G>A rs550995668
NM_000190.4(HMBS):c.*94T>C rs886047755
NM_000190.4(HMBS):c.13G>A (p.Gly5Ser) rs1565750711
NM_000190.4(HMBS):c.186G>C (p.Lys62Asn) rs1402435019
NM_000190.4(HMBS):c.232A>T (p.Thr78Ser) rs1565754479
NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del)
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.584G>A (p.Arg195His) rs1364712093
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) rs774594843
NM_000190.4(HMBS):c.654G>A (p.Gly218=) rs1350355238
NM_000190.4(HMBS):c.723C>G (p.Pro241=) rs202067277
NM_000190.4(HMBS):c.88-27_88-12del

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