ClinVar Miner

List of variants reported as likely benign for Peutz-Jeghers syndrome by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.920+32G>A rs374147918 0.00080
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000455.5(STK11):c.290+22C>T rs371255627 0.00023
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.734+20G>A rs375315233 0.00007
NM_000455.5(STK11):c.1109-21C>T rs371145906 0.00006
NM_000455.5(STK11):c.920+28C>T rs371039379 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000455.5(STK11):c.237C>T (p.Ile79=) rs751859508 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.465-18G>T rs587781177 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.678C>T (p.Asn226=) rs748832988 0.00005
NM_000455.5(STK11):c.432G>A (p.Pro144=) rs376788924 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.734+11C>T rs773604294 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000455.5(STK11):c.862+23C>T rs200302435 0.00004
NM_000455.5(STK11):c.920+29G>A rs191273506 0.00004
NM_000455.5(STK11):c.1035C>T (p.His345=) rs751619208 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=) rs532889728 0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=) rs148928808 0.00003
NM_000455.5(STK11):c.1109-13G>A rs568152768 0.00002
NM_000455.5(STK11):c.1109-14C>T rs780434041 0.00002
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00002
NM_000455.5(STK11):c.1137C>T (p.His379=) rs786201505 0.00001
NM_000455.5(STK11):c.318G>A (p.Arg106=) rs777784520 0.00001
NM_000455.5(STK11):c.464+8C>T rs863224669 0.00001
NM_000455.5(STK11):c.465-7C>T rs864622317 0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=) rs772940660 0.00001
NM_000455.5(STK11):c.621C>T (p.Asp207=) rs569380138 0.00001
NM_000455.5(STK11):c.863-6C>T rs757276643 0.00001
NM_000455.5(STK11):c.957A>G (p.Pro319=) rs755126393 0.00001
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.5(STK11):c.1062C>T (p.Phe354=) rs59912467
NM_000455.5(STK11):c.120C>T (p.Arg40=) rs878853984
NM_000455.5(STK11):c.290+21_290+26dup rs1555735086
NM_000455.5(STK11):c.375-5C>T rs1057517626
NM_000455.5(STK11):c.464+20del rs730881960
NM_000455.5(STK11):c.465-17GT[2] rs749644491
NM_000455.5(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.5(STK11):c.597+15G>T rs774187994
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000455.5(STK11):c.734+17C>A rs751929304
NM_000455.5(STK11):c.735-19C>T rs1057517576
NM_000455.5(STK11):c.920+7G>A rs2075607
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212

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